klinefelter syndrome

Summary

Summary: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

Top Publications

  1. ncbi Klinefelter's syndrome
    Fabio Lanfranco
    Institute of Reproductive Medicine of the University of Munster, Domagkstrasse 11, D 48129 Munster, Germany
    Lancet 364:273-83. 2004
  2. ncbi The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison
    Amy S Herlihy
    Murdoch Childrens Research Institute, Melbourne, Vic, Australia
    Med J Aust 194:24-8. 2011
  3. ncbi Clinical review: Klinefelter syndrome--a clinical update
    Kristian A Groth
    Department of Molecular Medicine, Aarhus University Hospital, DK 8000 Aarhus C, Denmark
    J Clin Endocrinol Metab 98:20-30. 2013
  4. ncbi Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome
    Jonathan D Schiff
    The James Buchanan Brady Foundation, Department of Urology, and The Center for Reproductive Medicine and Infertility, The New York Weill Cornell Medical Center, and the Population Council, New York, New York 10021, USA
    J Clin Endocrinol Metab 90:6263-7. 2005
  5. pmc Using information technology and social networking for recruitment of research participants: experience from an exploratory study of pediatric Klinefelter syndrome
    Sharron Close
    Yale University, School of Nursing, New Haven, CT 06536, USA
    J Med Internet Res 15:e48. 2013
  6. ncbi Klinefelter syndrome in clinical practice
    Anders Bojesen
    Department of Clinical Genetics, Vejle Hospital, Aarhus University Hospital, Denmark
    Nat Clin Pract Urol 4:192-204. 2007
  7. ncbi Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Horm Res 64:39-45. 2005
  8. ncbi Aberrant recombination and the origin of Klinefelter syndrome
    N S Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Hum Reprod Update 9:309-17. 2003
  9. ncbi Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study
    Anders Bojesen
    Medical Department M, Diabetes and Endocrinology, Aarhus Kommunehospital, Aarhus University Hospital, Denmark
    J Clin Endocrinol Metab 88:622-6. 2003
  10. ncbi Mortality in patients with Klinefelter syndrome in Britain: a cohort study
    Anthony J Swerdlow
    Section of Epidemiology, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
    J Clin Endocrinol Metab 90:6516-22. 2005

Detail Information

Publications242 found, 100 shown here

  1. ncbi Klinefelter's syndrome
    Fabio Lanfranco
    Institute of Reproductive Medicine of the University of Munster, Domagkstrasse 11, D 48129 Munster, Germany
    Lancet 364:273-83. 2004
    ..The genetic implications of the fertilisation procedures, including pretransfer or prenatal genetic assessment, must be explained to patients and their partners...
  2. ncbi The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison
    Amy S Herlihy
    Murdoch Childrens Research Institute, Melbourne, Vic, Australia
    Med J Aust 194:24-8. 2011
    To determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international findings.
  3. ncbi Clinical review: Klinefelter syndrome--a clinical update
    Kristian A Groth
    Department of Molecular Medicine, Aarhus University Hospital, DK 8000 Aarhus C, Denmark
    J Clin Endocrinol Metab 98:20-30. 2013
    Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published...
  4. ncbi Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome
    Jonathan D Schiff
    The James Buchanan Brady Foundation, Department of Urology, and The Center for Reproductive Medicine and Infertility, The New York Weill Cornell Medical Center, and the Population Council, New York, New York 10021, USA
    J Clin Endocrinol Metab 90:6263-7. 2005
    The aim of this study was to report the successful fertility treatment of men with Klinefelter syndrome using testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI).
  5. pmc Using information technology and social networking for recruitment of research participants: experience from an exploratory study of pediatric Klinefelter syndrome
    Sharron Close
    Yale University, School of Nursing, New Haven, CT 06536, USA
    J Med Internet Res 15:e48. 2013
    ..Recruitment of children with chronic and genetic conditions may further complicate the enrollment process...
  6. ncbi Klinefelter syndrome in clinical practice
    Anders Bojesen
    Department of Clinical Genetics, Vejle Hospital, Aarhus University Hospital, Denmark
    Nat Clin Pract Urol 4:192-204. 2007
    b>Klinefelter syndrome is the most common sex-chromosome disorder; it affects approximately one in every 660 men...
  7. ncbi Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Horm Res 64:39-45. 2005
    b>Klinefelter syndrome (KS) is characterized by the karyotype 47,XXY. In this study, we evaluated the physical and testicular failure phenotypes of infants and young boys with KS.
  8. ncbi Aberrant recombination and the origin of Klinefelter syndrome
    N S Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Hum Reprod Update 9:309-17. 2003
    ..However, Klinefelter syndrome is a notable exception, as nearly one-half of all cases derive from paternal non-disjunction...
  9. ncbi Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study
    Anders Bojesen
    Medical Department M, Diabetes and Endocrinology, Aarhus Kommunehospital, Aarhus University Hospital, Denmark
    J Clin Endocrinol Metab 88:622-6. 2003
    The objective of this study was to describe the prevalence of Klinefelter syndrome (KS) prenatally and postnatally in Denmark and determine the influence of maternal age...
  10. ncbi Mortality in patients with Klinefelter syndrome in Britain: a cohort study
    Anthony J Swerdlow
    Section of Epidemiology, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
    J Clin Endocrinol Metab 90:6516-22. 2005
    b>Klinefelter syndrome is characterized by hypogonadism and infertility, consequent on the presence of extra X chromosome(s)...
  11. ncbi Klinefelter syndrome: expanding the phenotype and identifying new research directions
    Joe Leigh Simpson
    Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 5:460-8. 2003
    The purpose of this study is to summarize new data on etiology and clinical features of Klinefelter syndrome in order to derive research priorities.
  12. ncbi Working memory and relational reasoning in Klinefelter syndrome
    Christina L Fales
    Department of Psychology, University of California, Los Angeles, California 90095 1563, USA
    J Int Neuropsychol Soc 9:839-46. 2003
    b>Klinefelter syndrome (KS) is a sex chromosome abnormality associated with male infertility and mild cognitive deficits. Individuals with KS have been reported to have impaired verbal ability, as well as deficits in executive function...
  13. pmc Neuroanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry study
    Daniel M Bryant
    Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California 94305 5795, USA
    J Neurosci 31:6654-60. 2011
    b>Klinefelter syndrome (KS) is a genetic disorder characterized by a supernumerary X chromosome. As such, KS offers a naturally occurring human model for the study of both X-chromosome gene expression and androgen on brain development...
  14. ncbi XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study
    Jay N Giedd
    Child Psychiatry Branch NIMH, National Institutes of Health, Building 10, Room 4C110, 10 Center Dr, MSC 1367, Bethesda, MD 20892, USA
    Pediatrics 119:e232-40. 2007
    An extra X chromosome in males (XXY), known as Klinefelter syndrome, is associated with characteristic physical, cognitive, and behavioral features of variable severity...
  15. ncbi Characterization of loss-of-inactive X in Klinefelter syndrome and female-derived cancer cells
    Takahiro Kawakami
    Department of Urology, Shiga University of Medical Science, Otsu, Shiga 520 2192, Japan
    Oncogene 23:6163-9. 2004
    The increased risk of several types of cancer in Klinefelter syndrome (47XXY) suggests that the extra X chromosome may be involved in the tumorigenesis associated with this syndrome...
  16. ncbi Inhibin B and anti-Müllerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome
    Najiba Lahlou
    Laboratoire de Biologie Hormonale, Hopital Saint Vincent de Paul, 75014 Paris, France
    J Clin Endocrinol Metab 89:1864-8. 2004
    b>Klinefelter syndrome is a major cause of infertility in the male...
  17. ncbi Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome
    Anne M Wikström
    Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    Clin Endocrinol (Oxf) 65:92-7. 2006
    ..the X chromosome influence growth, pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome (KS)...
  18. ncbi Testicular function and fertility in men with Klinefelter syndrome: a review
    L Aksglaede
    Department of Growth and Reproduction, Rigshospitalet, Section 5064, University of Copenhagen, Copenhagen, Denmark
    Eur J Endocrinol 168:R67-76. 2013
    b>Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys...
  19. ncbi The genetic origin of Klinefelter syndrome and its effect on spermatogenesis
    Merel Maiburg
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Fertil Steril 98:253-60. 2012
    b>Klinefelter syndrome is the most prevalent chromosome abnormality and genetic cause of azoospermia in males...
  20. ncbi A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: case report
    R Ron-El
    IVF and Infertility Unit, Assaf Harofeh Medical Center, Tel Aviv University and Institute of Human Genetics, Kaplan Medical Center, Israel
    Hum Reprod 15:1804-6. 2000
    ..This case report proves the presence of hyperploid spermatozoa in the seminiferous lumen, and strengthens the necessity of genetic diagnosis of the embryos or fetuses in such pregnancies to fathers with non-mosaic Klinefelter's syndrome...
  21. ncbi Clinical and diagnostic features of patients with suspected Klinefelter syndrome
    Axel Kamischke
    Institute of Reproductive Medicine and the Institute of Human Genetics of the University, Munster, Germany
    J Androl 24:41-8. 2003
    b>Klinefelter syndrome, with an incidence of 1:600 male newborns, is the most frequent form of male hypogonadism. However, despite its relatively high frequency, the syndrome is often overlooked...
  22. ncbi Natural history of seminiferous tubule degeneration in Klinefelter syndrome
    Lise Aksglaede
    Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Hum Reprod Update 12:39-48. 2006
    b>Klinefelter syndrome (47,XXY) is characterized by small, firm testis, gynaecomastia, azoospermia and hypergonadotropic hypogonadism. Degeneration of the seminiferous tubules in 47,XXY males is a well-described phenomenon...
  23. ncbi Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism
    Lise Aksglaede
    University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark
    Acta Paediatr 100:839-45. 2011
    ..We therefore aimed at determining circulating AMH concentrations in patients with 47,XXY Klinefelter syndrome (KS) with or without cryptorchidism.
  24. pmc An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, 1025 Walnut Street, Suite 726, Philadelphia, PA 19107, USA
    Dev Disabil Res Rev 15:309-17. 2009
    ..to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly ..
  25. pmc Klinefelter syndrome and other sex chromosomal aneuploidies
    Jeannie Visootsak
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Orphanet J Rare Dis 1:42. 2006
    The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY...
  26. ncbi Is the prevalence of Klinefelter syndrome increasing?
    Joan K Morris
    Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and The London, Queen Mary s School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK
    Eur J Hum Genet 16:163-70. 2008
    ....
  27. ncbi Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome
    Sophie van Rijn
    Department of Experimental Psychology, Helmholtz Instituut, Universiteit Utrecht, Utrecht, The Netherlands
    J Autism Dev Disord 38:1634-41. 2008
    Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome...
  28. ncbi Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses
    Anders Bojesen
    Medical Department M Diabetes and Endocrinology, Aarhus Sygehus, Aarhus University Hospital, Noerrebrogade 42 44, DK 8000 Aarhus C, Denmark
    J Clin Endocrinol Metab 91:1254-60. 2006
    b>Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man; it affects approximately one in 660 men and is a common cause of hypogonadism and infertility...
  29. ncbi Cognitive and motor development during childhood in boys with Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Am J Med Genet A 146:708-19. 2008
    The goal of this study was to expand the description of the cognitive development phenotype in boys with Klinefelter syndrome (47,XXY)...
  30. ncbi Klinefelter syndrome: clinical and molecular aspects
    Jacques C Giltay
    University Medical Centre Utrecht, Department of Medical Genetics, Utrecht, The Netherlands
    Expert Rev Mol Diagn 10:765-76. 2010
    b>Klinefelter syndrome is the most common chromosome abnormality in humans. The estimated prevalence is one in 500 to one in 1000 males but due to the widely variable and often aspecific features, only one in four cases are recognized...
  31. ncbi Effect of sex hormone treatment on circulating adiponectin and subforms in Turner and Klinefelter syndrome
    C Høst
    Medical Department M, Diabetes and Endocrinology and the Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, DK 8000 Aarhus C, Denmark
    Eur J Clin Invest 40:211-9. 2010
    ..We investigated the impact of sex hormone replacement therapy (HRT) on circulating adiponectin and its subforms, fasting lipids and measures of insulin sensitivity in Turner syndrome (TS) and Klinefelter syndrome (KS) respectively.
  32. ncbi Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases
    D Stemkens
    Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands
    Clin Genet 70:43-8. 2006
    ..imprinting of such genes on the X chromosome also influence psychomotor development and growth in men with Klinefelter syndrome (KS), who have a supernumerary X? We recorded anthropometric and psychomotor development parameters for 61 ..
  33. ncbi Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome
    P Christiansen
    Department of Growth and Reproduction, Rigshospitalet, DK 2100 Copenhagen, Denmark
    J Clin Endocrinol Metab 88:888-91. 2003
    The aim of the study was to investigate the longitudinal changes of inhibin B in a group of patients with Klinefelter syndrome (KS; karyotype 47,XXY) progressing through puberty and to compare them to a group of age- and puberty-matched ..
  34. ncbi Bone mass in subjects with Klinefelter syndrome: role of testosterone levels and androgen receptor gene CAG polymorphism
    Alberto Ferlin
    Department of Histology, Section of Clinical Pathology and Centre for Male Gamete Cryopreservation, University of Padova, 35121 Padova, Italy
    J Clin Endocrinol Metab 96:E739-45. 2011
    b>Klinefelter syndrome (KS) is a chromosomal alteration characterized by supernumerary X-chromosome(s), primary hypogonadism, decreased pubertal peak bone mineral density (BMD), and accelerated bone loss during adulthood...
  35. pmc 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome
    Nicole Tartaglia
    Section of Neurodevelopmental Behavioral Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, USA
    Acta Paediatr 100:851-60. 2011
    ..While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and ..
  36. ncbi 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management
    Lise Aksglaede
    Department of Growth and Reproduction GR, Rigshospitalet, Blegdamsvej, Copenhagen Ø, Denmark
    Am J Med Genet C Semin Med Genet 163:55-63. 2013
    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys...
  37. ncbi Prevalence and risk factors of diabetes in patients with Klinefelter syndrome: a longitudinal observational study
    Mao Jiang-Feng
    Key Laboratory of Endocrinology, Department of Endocrinology, Peking Union Medical College Hospital, Ministry of Health, Beijing, People s Republic of China
    Fertil Steril 98:1331-5. 2012
    To evaluate the prevalence and risk factors of diabetes in patients with Klinefelter syndrome.
  38. ncbi Klinefelter syndrome: an argument for early aggressive hormonal and fertility management
    Akanksha Mehta
    Department of Urology, Weill Cornell Medical College, New York, New York, USA
    Fertil Steril 98:274-83. 2012
    To investigate the impact of early hormone replacement therapy (HT) on sperm retrieval rates in patients with Klinefelter syndrome (KS).
  39. ncbi Spermatogonial stem cell preservation in boys with Klinefelter syndrome: to bank or not to bank, that's the question
    Inge Gies
    Department of Pediatrics, UZ Brussel, Brussels, Belgium
    Fertil Steril 98:284-9. 2012
    Although early development of testis appears normal in boys with Klinefelter syndrome (KS), spermatogonial stem cell (SSC) depletion occurs in midpuberty, leading to infertility...
  40. ncbi Neuropsychological profiles of adults with Klinefelter syndrome
    K B Boone
    Department of Psychiatry, Harbor UCLA Medical Center, Torrance, CA 90509 2910, USA
    J Int Neuropsychol Soc 7:446-56. 2001
    Children and adolescents with Klinefelter syndrome (XXY) have been reported to show deficits in language processing including VIQ < PIQ and a learning disability in reading and spelling...
  41. ncbi Methylation-specific PCR allows for fast diagnosis of X chromosome disomy and reveals skewed inactivation of the X chromosome in men with Klinefelter syndrome
    Akanksha Mehta
    Department of Urology, Weill Cornell Medical College, 525 E 68th St, Box 580, New York, NY 10021, USA
    J Androl 33:955-62. 2012
    b>Klinefelter syndrome (KS) remains the most common, yet often undiagnosed, chromosomal aberration in men. Early diagnosis and treatment can improve the health of patients with KS...
  42. ncbi Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation
    A Bojesen
    Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, Vejle, Denmark
    Int J Androl 34:e642-8. 2011
    The phenotypic variation of Klinefelter syndrome (KS) is wide and may by caused by various genetic and epigenetic effects...
  43. ncbi The psychosocial impact of Klinefelter syndrome and factors influencing quality of life
    Amy S Herlihy
    Department of Public Health Genetics, Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville, Victoria 3052, Australia
    Genet Med 13:632-42. 2011
    There is considerable information regarding the medical and cognitive aspects of Klinefelter syndrome yet little research regarding its psychosocial impact...
  44. ncbi TESE-ICSI in patients with non-mosaic Klinefelter syndrome: a comparative study
    Hakan Yarali
    Hacettepe University, School of Medicine, Department of Obstetrics and Gynecology, Ankara, Turkey
    Reprod Biomed Online 18:756-60. 2009
    ..testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) treatment in patients with Klinefelter syndrome. The current study compared TESE-ICSI treatment in patients with non-mosaic Klinefelter syndrome with ..
  45. ncbi Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome
    Kubilay Vicdan
    Private Ankara IVF Center, Ankara, Turkey
    Fertil Steril 96:577-9. 2011
    To report a case of Klinefelter syndrome combined with Kartagener syndrome.
  46. ncbi X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients
    Michael Zitzmann
    Institute of Reproductive Medicine, University of Munster, D 48129 Munster, Germany
    J Clin Endocrinol Metab 89:6208-17. 2004
    b>Klinefelter syndrome is characterized by a vast range of phenotypes related to androgen effects...
  47. ncbi Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome
    Jin Ho Choe
    Department of Urology, Cheil General Hospital, Kwandong University College of Medicine, 1 19 Mukjeong dong, Jung Gu, Seoul 100 380, Korea
    Asian J Androl 9:815-20. 2007
    To evaluate the occurrence of classical azoospermia factor (AZF) deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome (KS).
  48. ncbi A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization
    Pornpoj Pramyothin
    Department of Medicine, John A Burns School of Medicine, University of Hawaii, 677 Ala Moana Boulevard, 1024, Honolulu, HI 96813, USA
    Endocrine 37:379-82. 2010
    ..31 in addition to his abnormal karyotype. This duplication was also found in his mother who appeared normal. We raise the possibility that the phenotype in this patient is a combination of both extra X chromosome and Xq21 duplication...
  49. ncbi Genetic association between AZF region polymorphism and Klinefelter syndrome
    Lobna Hadjkacem-Loukil
    Laboratory of Human Molecular Genetics, Faculty of Medicine, CHU Hospital Habib Bourguiba, Sfax 3029, Tunisia
    Reprod Biomed Online 19:547-51. 2009
    Because of conflicting results about the association between azoospermic patients with Klinefelter syndrome (KFS) and azoospermia factor (AZF) polymorphism, and because nothing is known about the association of KFS with partial AZFc ..
  50. ncbi Postnatal screening for Klinefelter syndrome: is there a rationale?
    Amy S Herlihy
    Murdoch Childrens Research Institute, Parkville, Vic, Australia
    Acta Paediatr 100:923-33. 2011
    Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan...
  51. ncbi Bone mineral density and quantitative ultrasound parameters in patients with Klinefelter's syndrome after long-term testosterone substitution
    J P van den Bergh
    Department of Endocrinology, University Hospital Nijmegen, Nijmegen, The Netherlands
    Osteoporos Int 12:55-62. 2001
    ..This percentage was even higher for BMAD. QUS parameters were also low in the KS patient group when compared with Dutch control subjects. QUS parameters cannot be used to predict BMD or BMAD in KS patients...
  52. ncbi Comparison of sperm retrieval and intracytoplasmic sperm injection outcome in patients with and without Klinefelter syndrome
    Marjan Sabbaghian
    Department of Andrology at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
    Urology 83:107-10. 2014
    To evaluate microsurgical testicular sperm extraction (micro-TESE) and intracytoplasmic sperm injection (ICSI) treatment in patients with non-mosaic Klinefelter syndrome (KS).
  53. ncbi Testosterone and the child (0-12 years) with Klinefelter syndrome (47XXY): a review
    Ilene Fennoy
    Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA
    Acta Paediatr 100:846-50. 2011
    To review the evidence base for providing testosterone therapy in the infant and prepubertal child with Klinefelter syndrome (KS).
  54. ncbi Prader-Willi and Klinefelter syndrome: a coincidence or not?
    Pradeep C Vasudevan
    Department of Clinical Genetics, University Hospitals of Leicester, NHS Trust Leicester Royal Infirmary, Leicester, Leicestershire, UK
    Clin Dysmorphol 16:127-9. 2007
    ..He is possibly the youngest to be reported with both Prader-Willi syndrome and Klinefelter syndrome. We have shown that the extra X chromosome causing Klinefelter syndrome is paternal in origin and Prader-..
  55. ncbi Extragonadal germ cell tumors are often associated with Klinefelter syndrome
    David Aguirre
    Department of Pathology Hospital General de México School of Medicine Universidad Nacional Autonoma de México, Mexico City
    Hum Pathol 37:477-80. 2006
    b>Klinefelter syndrome is a well documented abnormality of sex differentiation, with an incidence of 1 in 600 newborn males...
  56. ncbi Clinical comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome
    Minoru Koga
    Department of Urology, Osaka Central Hospital, Osaka, Japan
    Urology 70:341-5. 2007
    ..has become the treatment of choice for patients with nonobstructive azoospermia related to nonmosaic Klinefelter syndrome (KS) who want to father children...
  57. ncbi Immunoexpression of androgen receptor and nine markers of maturation in the testes of adolescent boys with Klinefelter syndrome: evidence for degeneration of germ cells at the onset of meiosis
    Anne M Wikström
    Hospital for Children and Adolescents, Helsinki University Central Hospital, P O Box 281, 00029 Helsinki, Finland
    J Clin Endocrinol Metab 92:714-9. 2007
    The pathogenesis and mechanisms behind the degeneration of the seminiferous tubules in testes of subjects with Klinefelter syndrome (KS) are yet unknown.
  58. ncbi Morbidity and mortality in Klinefelter syndrome (47,XXY)
    Anders Bojesen
    Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, Denmark
    Acta Paediatr 100:807-13. 2011
    b>Klinefelter syndrome (KS) (47,XXY) is the most common sex chromosome disorder in man and is a relatively common cause of male infertility and hypogonadism...
  59. ncbi Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY)
    Alan D Rogol
    The James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN, USA
    Pediatr Endocrinol Rev 8:145-50. 2010
    ..as the dose is escalated more effects may be noted in the behavioral sphere, especially in adolescents with Klinefelter syndrome compared to those who receive replacement therapy with testosterone for other purposes, for example, ..
  60. ncbi Socioeconomic trajectories affect mortality in Klinefelter syndrome
    Anders Bojesen
    Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, 7100 Vejle, Denmark
    J Clin Endocrinol Metab 96:2098-104. 2011
    b>Klinefelter syndrome (KS) is associated with male infertility, hypogonadism, and learning disability. Morbidity and mortality are increased and the causes behind remain unknown...
  61. pmc Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language
    Kyle Steinman
    Division of Child Neurology, Department of Neurology, University of California San Francisco, 350 Parnassus Ave, Suite 609, San Francisco, CA 94117, USA
    Dev Disabil Res Rev 15:295-308. 2009
    ....
  62. ncbi Successful testicular sperm extraction in Korean Klinefelter syndrome
    Ju Tae Seo
    Department of Urology, Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospital and Women s Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Urology 64:1208-11. 2004
    To evaluate the clinical features of Korean Klinefelter syndrome (KS) and the outcome of intracytoplasmic sperm injection using fresh testicular spermatozoa obtained by testicular sperm extraction from these infertile men...
  63. pmc Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome
    Martha Z Bardsley
    Pediatrics, Thomas Jefferson University Nemours, Philadelphia, PA, USA
    Acta Paediatr 100:866-70. 2011
    To investigate risk factors for metabolic syndrome in prepubertal boys with Klinefelter syndrome.
  64. ncbi Assessment of Leydig and Sertoli cell functions in infants with nonmosaic Klinefelter syndrome: insulin-like peptide 3 levels are normal and positively correlated with LH levels
    Sylvie Cabrol
    Department of Pediatric Endocrinology, Hopital Armand Trousseau, Assistance Publique Hopitaux de Paris, Pierre and Marie Curie University, 75012 Paris, France
    J Clin Endocrinol Metab 96:E746-53. 2011
    b>Klinefelter syndrome (KS) is the most common sex chromosome disorder and a major cause of male infertility...
  65. ncbi Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone
    A Bojesen
    Department of Clinical Genetics, Vejle Hospital, DK 7100 Vejle, Denmark
    Osteoporos Int 22:1441-50. 2011
    b>Klinefelter syndrome (KS) patients have lower bone mineral density (BMD) at the spine, hip and forearm compared to healthy subjects, but frank osteoporosis is not common...
  66. ncbi Prognostic value of the clinical and laboratory evaluation in patients with nonmosaic Klinefelter syndrome who are receiving assisted reproductive therapy
    Igael Madgar
    Male Infertility, Department of Urology and Obstetrics and Gynecology, The Chaim Sheba Medical Center, Tel Hashomer, Israel
    Fertil Steril 77:1167-9. 2002
    ..To characterize clinical and laboratory findings in nonmosaic 47,XXY patients that may help to predict spermatogenetic activity in their testicles...
  67. ncbi A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene
    A M Ottesen
    Department of Growth and Reproduction, Juliane Marie Centre, Section GR 5064, The National University Hospital of Copenhagen, DK 2100, Copenhagen, Denmark
    Mol Hum Reprod 13:745-50. 2007
    Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis...
  68. ncbi Fire-settng behavior associated with Klinefelter syndrome
    Ariel Eytan
    Geneva University Hospitals, Department of Psychiatry, Hopital Cantonal, Unité UPHA 5DL, Switzerland
    Int J Psychiatry Med 32:395-9. 2002
    ..During the following hospitalization in a psychiatric unit, a genetic syndrome, namely Klinefelter syndrome (47,XXY), was diagnosed...
  69. pmc Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Pediatrics 129:769-78. 2012
    ..contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47,XYY syndrome (XYY) or 47,XXY Klinefelter syndrome (KS) and controls and investigate the effect of prenatal diagnosis on the phenotype.
  70. ncbi Klinefelter syndrome
    Anne M Wikström
    HUCH, Hospital for Children and Adolescents, Helsinki University Central Hospital, P O Box 281, FI 00029 Helsinki, Finland
    Best Pract Res Clin Endocrinol Metab 25:239-50. 2011
    b>Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty...
  71. ncbi Antiphospholipid syndrome in a 21-year-old with Klinefelter syndrome
    George R Mount
    Rheumatology Service, Walter Reed Army Medical Center, NW, Washington, DC 20307, USA
    J Clin Rheumatol 15:27-8. 2009
    We describe a patient with Klinefelter syndrome presenting with recurrent arterial thromboses secondary to the antiphospholipid syndrome...
  72. ncbi Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome
    N Gruchy
    Laboratoire de Cytogenetique Prenatale, Service de Genetique, CHU Caen Cote de Nacre, UFR de Médecine Caen, F 14033 Caen cedex 9, France
    Hum Reprod 26:2570-5. 2011
    b>Klinefelter syndrome (KS), a common sex chromosome aneuploidy (47,XXY) is diagnosed prenatally with an incidence of 0.15%. The diagnosis is generally incidental, since there are no typical malformations on ultrasound (US)...
  73. ncbi Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys
    Anne M Wikström
    Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, 00029 Helsinki, Finland
    Pediatr Res 59:854-9. 2006
    Testosterone (T)-substitution therapy is widely used in adult patients with Klinefelter syndrome (KS) to prevent symptoms and sequels of androgen deficiency, but it is currently unknown if adolescent boys with KS benefit from early T ..
  74. ncbi Familiar spastic paraplegia presenting in a boy with Klinefelter syndrome--case report
    Sajra Uzicanin
    Pediatric Clinic, University Clinical Center Sarajevo
    Med Arh 61:52-3. 2007
    In this case report, the boy with familiar spastic paraplegia, the relatively rare genetic disorder and Klinefelter syndrome that was found during investigation, has been presented...
  75. ncbi Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome
    Claus H Gravholt
    Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus Sygehus NBG, Denmark
    Acta Paediatr 100:871-7. 2011
    b>Klinefelter syndrome (KS) affects 1:660 men, making it the most common sex-chromosome disorder in man, and is a common cause of infertility, hypogonadism and learning disability...
  76. ncbi Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: case report
    A Juul
    Department of Growth and Reproduction GR, Rigshospitalet Section 5064, University of Copenhagen, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Hum Reprod 22:1907-11. 2007
    Patients with Klinefelter syndrome (47,XXY) are characterized by eunuchoid body proportions, gynaecomastia, small firm testes and azoospermia...
  77. ncbi Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome
    Anne M Wikström
    Hospital for Children and Adolescents, Helsinki University Central Hospital, FI 00029 Helsinki, Finland
    J Clin Endocrinol Metab 91:4705-8. 2006
    ..Levels of the Leydig cell-specific hormone insulin-like factor 3 (INSL3) are incompletely characterized in boys during pubertal development...
  78. ncbi Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome
    Carole A Samango-Sprouse
    George Washington University of the Health Sciences, Washington, DC, USA
    Acta Paediatr 100:861-5. 2011
    ..The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY...
  79. ncbi Klinefelter syndrome presenting with precocious puberty due to a human chorionic gonadotropin (hCG)-producing mediastinal germinoma
    Sasigarn A Bowden
    J Pediatr Endocrinol Metab 19:1371. 2006
  80. ncbi Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs
    Céline M Girardin
    CHU Sainte Justine, Endocrinology Service, Montreal, Que, Canada
    Horm Res 72:98-105. 2009
    We compared the phenotype of adolescents with Klinefelter syndrome diagnosed by amniocentesis or postnatally to the general population with a view to evidence-based genetic counselling.
  81. ncbi Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review
    Dominik Denschlag
    Department of Obstetrics and GynecologyUniversity of Freiburg, Freiburg, Germany
    Fertil Steril 82:775-9. 2004
    ..To summarize the existing experience with the use and success rate of assisted reproductive techniques (ART), in particular testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), in Klinefelter patients...
  82. ncbi Novel genetic aspects of Klinefelter's syndrome
    F Tüttelmann
    Institute of Human Genetics, University of Munster, Vesaliusweg 12 14, D 48149 Munster, Germany
    Mol Hum Reprod 16:386-95. 2010
    ..Lessons learned from comparisons with normal males and especially females as well as other sex chromosomal aneuploidies are presented. In addition, genetic topics concerning fertility and counseling are discussed...
  83. ncbi Spermatogenesis in Klinefelter syndrome
    R Selice
    Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology and Center for Male Gamete Cryopreservation, University of Padua, Via Gabelli 63, Padua, Italy
    J Endocrinol Invest 33:789-93. 2010
    b>Klinefelter syndrome (KS) (47,XXY) is the most common sex chromosomal disorder, and it is a frequent form of male hypogonadism and infertility...
  84. ncbi Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome
    Andrew R Zinn
    McDermott Center for Human Growth and Development, and Department of Internal Medicne, University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, Texas 75390 8591, USA
    J Clin Endocrinol Metab 90:5041-6. 2005
    b>Klinefelter syndrome (KS; 47,XXY karyotype and variants) is characterized by tall stature and testicular failure, with marked variation in severity of the phenotype...
  85. pmc The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome)
    Nicole Tartaglia
    University of Colorado School of Medicine, Department of Pediatrics, and Child Development Unit, The Children s Hospital, Aurora, CO 80045, USA
    Pediatr Endocrinol Rev 8:151-9. 2010
    The behavioral phenotype of 47,XXY (Klinefelter syndrome) includes increased risks for developmental delays, language-based learning disabilities, executive dysfunction/ADHD, and socialemotional difficulties...
  86. ncbi New concepts in Klinefelter syndrome
    Darius A Paduch
    Department of Urology and Reproductive Medicine, Weill Medical College of Cornell University, New York, NY 10065, USA
    Curr Opin Urol 18:621-7. 2008
    b>Klinefelter syndrome, 47,XXY and its variants, is the most common chromosomal aberration among men, with estimated frequency of 1: 500 among newborns...
  87. ncbi Reproduction in men with Klinefelter syndrome: the past, the present, and the future
    Darius A Paduch
    Department of Urology and Reproductive Medicine, Weill Medical College of Cornell University, New York, New York 10065, USA
    Semin Reprod Med 27:137-48. 2009
    b>Klinefelter syndrome (KS) is the most common chromosomal aberration in men...
  88. ncbi Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetuses
    Athanasios K Anagnostopoulos
    Medical Genetics, Athens University School of Medicine, Athens, Greece
    J Proteomics 73:943-50. 2010
    b>Klinefelter syndrome is a sex chromosomal abnormality (47, XXY karyotype), occurring approximately in 1 in 1000 male live births...
  89. ncbi Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome
    Hilgo Bruining
    University Medical Centre Utrecht, Department of Child and Adolescent Psychiatry, Heidelberglaan 100, Postbus 85500, 3508 GA, Utrecht, Netherlands
    Pediatrics 123:e865-70. 2009
    b>Klinefelter syndrome is the most frequent chromosomal aneuploidy with a prevalence of 1 in 700. Klinefelter syndrome has been widely associated with cognitive impairment and language problems...
  90. pmc The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors
    Richard Boada
    Department of Pediatrics, University of Colorado Denver School of Medicine, The Children s Hospital, Aurora, Colorado, USA
    Dev Disabil Res Rev 15:284-94. 2009
    b>Klinefelter syndrome (KS) or 47,XXY occurs in approximately 1 in 650 males. Individuals with KS often present with physical characteristics including tall stature, hypogonadism, and fertility problems...
  91. ncbi Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?
    G Fullerton
    Aberdeen Fertility Centre, Aberdeen Maternity Hospital, Aberdeen AB25 2ZN, UK
    Hum Reprod 25:588-97. 2010
    b>Klinefelter syndrome is a common genetic condition. Affected non-mosaic men are azoospermic and have been labelled as infertile...
  92. ncbi Autism spectrum disorder and Klinefelter syndrome
    P Jha
    Division of Child Psychiatry, University of Michigan Hospital, 200 East Hospital Drive, Ann Arbor, MI 48109 0277, USA
    Eur Child Adolesc Psychiatry 16:305-8. 2007
    ..However, few detailed case descriptions of patients with KS and autism have not been published...
  93. ncbi Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome
    Martha P D Zeger
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    J Pediatr 152:716-22. 2008
    To describe the Klinefelter Syndrome (KS) phenotype during childhood in a large cohort.
  94. ncbi X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47,XXY)
    Sophie van Rijn
    Department of Psychiatry, Rudolf Magnus Institute for Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands
    Schizophr Res 84:194-203. 2006
    Studying Klinefelter syndrome (47,XXY), a genetically defined disorder characterized by the presence of an additional X chromosome, can reveal insights into genotype-phenotype associations...
  95. ncbi Premature fusion and excessive calcification of coronal sutures in patients with Klinefelter syndrome
    Jerzy Kosowicz
    Department of Endocrinology and Metabolism, University of Medical Sciences in Poznan, Poznan, Poland
    Neuro Endocrinol Lett 27:137-41. 2006
    The purpose of this paper is to report on radiographic features of the cranial vault abnormalities frequently seen but not yet described in detail in patients with Klinefelter syndrome.
  96. ncbi Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins
    D Stemkens
    Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands
    Am J Med Genet A 143:1906-11. 2007
    b>Klinefelter syndrome (KS; 47, XXY) is characterized by increased body height, hypergonadotrophic hypogonadism, and infertility. We describe a patient with a variant KS (47,X,i(Xq),Y) who has a twin brother with a 46,XY karyotype...
  97. ncbi Diagnosis and management of the adolescent boy with Klinefelter syndrome
    Melanie A Manning
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, California 94305 5208, USA
    Adolesc Med 13:367-74, viii. 2002
    b>Klinefelter syndrome is the most common sex chromosome disorder, affecting approximately 1/500 to 1/1000 males. The condition results when one or more extra X chromosomes are present in the cells of XY fetuses...
  98. ncbi Agnogenic myeloid metaplasia associated with Klinefelter syndrome: a case report
    S Kumar
    Division of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Ann Hematol 81:215-8. 2002
    b>Klinefelter syndrome is the most commonly diagnosed sex chromosome disorder among males. It is usually associated with 47 chromosomes, including two Xs and one Y...
  99. ncbi Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males
    M M Khalifa
    Division of Medical Genetics, Department of Pediatrics, Queen s University and Kingston General Hospital, Kingston, Ontario, Canada
    Clin Genet 61:49-53. 2002
    b>Klinefelter syndrome (KS) has not typically been associated with mental retardation (MR), however, in recent years a growing body of evidence suggested that KS boys often experience language deficits and academic difficulties...
  100. ncbi Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome
    B Eskenazi
    School of Public Health, University of California, Berkeley, CA 94720, USA
    Hum Reprod 17:576-83. 2002
    ..It is unclear whether frequency of sperm aneuploidy is associated with risk of fathering children with trisomy...
  101. pmc Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    S Kenwrick
    Addenbrooke s Hospital, Cambridge, UK
    Am J Hum Genet 69:1210-7. 2001
    ..Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation...

Research Grants22

  1. Effects of Testosterone and Genetic Factors on Psychological and Motor Function i
    NICOLE RENEE TARTAGLIA; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Klinefelter syndrome (KS/XXY) is the most common chromosomal abnormality in humans (1:650 males) and represents an excellent model in which to study the interplay between genetic factors and ..
  2. Brain Development &Sex Chromosomes: Imaging of Turner and Klinefelter Syndromes
    Allan L Reiss; Fiscal Year: 2013
    ..Sex chromosome aneuploidies such as Turner syndrome ('TS', 45,X) and Klinefelter syndrome ('KS', 47,XXY) represent unique paradigms for elucidating the influences of sex chromosome gene ..
  3. MECHANISMS OF HUMAN CHROMOSOME ABNORMALITIES
    HUNTINGTON WILLARD; Fiscal Year: 1999
    ..the male gametes, to study the incidence and etiology of paternal non-disfunction in trisomy 21 and in Klinefelter syndrome. In studies of Robertsonian translocations, the most common structural chromosome abnormality in humans, we ..
  4. GENETICS OF COGNITION IN ADULT TURNER SYNDROME
    Judith Ross; Fiscal Year: 2005
    ..Characterization of specific TS causative genes would provide insight into the pathophysiology of 45,X, Turner syndrome, as well as the process of normal neurocognitive development. ..
  5. Androgen effect on motor/cognitive outcome in Klinefelter syndrome
    Judith L Ross; Fiscal Year: 2010
    b>Klinefelter syndrome (KS), a genetic disorder that occurs in 1/1000 males, is defined by the abnormal chromosome karyotype 47.XXY (extra X chromosome), and has characteristic physical and cognitive phenotypes evident in childhood...
  6. ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROME
    Judith Ross; Fiscal Year: 2007
    ..In addition, these data will help determine how to optimize cognitive function in Turner syndrome and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. ..
  7. THE GENETICS OF IDIOPATHIC BASAL GANGLIA CALCIFICATION
    Daniel Geschwind; Fiscal Year: 2004
    ..Physical mapping and candidate screening for mutations will be pursued as the region is narrowed to identify the IBGC gene. A genome scan will be performed in families who are not linked to the chr.14 locus. ..
  8. Novel Genetic Risk Factors for Alzheimer's Disease (AD) & Frontotemporal Dementia
    Daniel Geschwind; Fiscal Year: 2009
    ..abstract_text> ..
  9. Identification of targets of FoxP2 in the brain
    Daniel Geschwind; Fiscal Year: 2006
    ..This proposal has a strong screening component in an area where no molecular mechanisms have been identified and fits well within the R21 framework. ..
  10. ASYMMETRICALLY EXPRESSED GENES IN DEVELOPING CEREBRUM
    Daniel Geschwind; Fiscal Year: 2003
    ..abstract_text> ..
  11. A Genomewide Search for Autism Susceptibilty Loci
    Daniel Geschwind; Fiscal Year: 2006
    ..All phenotypic and genotype data will be made accessible via the Internet on a rolling basis, further enhancing the value of this resource to the community. ..
  12. Genetics of Turner Syndrome Neurocognitive Phenotype
    Andrew Zinn; Fiscal Year: 2006
    ..The project will combine molecular characterization of subjects with detailed cognitive evaluations to elucidate the role of SHOX or other pseudoautosomal gene deficiencies in the TS neurocognitive phenotype. ..
  13. REGULATORY MECHANISMS OF GROWTH-PLATE CHONDROCYTES
    Robert Olney; Fiscal Year: 2002
    ..Conversely, by identifying the important regulators of the human growth-plate, we will provide clues to direct the search for the genes responsible for some of the osteochondrodysplasias. ..
  14. A MULTI-FACETED SEARCH FOR AUTISM DISEASE GENES
    Thomas Wassink; Fiscal Year: 2004
    ..Taken together, the training plan and research proposal provide for a breadth of training, the potential for meaningful discovery, and support for the establishment of an independent research career. ..
  15. Sjogren's model with anti-Ro/La and Salivary Pathology and Dysfunction
    R Hal Scofield; Fiscal Year: 2010
    ..Improved understanding of the disease at a fundamental level is possible through study of animal models. Such understanding may lead to improved recognition and treatment. ..
  16. Genetic Determinants of Brain Structure and Disease Risk in Schizophrenia
    Thomas H Wassink; Fiscal Year: 2010
    ....
  17. White Matter Integrity in Familial Schizophrenia
    Lynn DeLisi; Fiscal Year: 2006
    ..Since this hypothesis has not been tested specifically in this way and is speculative, but if correct, may have a great impact on future research, we are using the R21 exploratory mechanism. ..
  18. The X chromosome in systemic lupus erythematosus
    R Hal Scofield; Fiscal Year: 2010
    ..This proposal will determine whether the presence of two X chromosomes is a risk factor for women and men with Klinefelter's syndrome (47,XXY). ..
  19. MOLECULAR GENETICS OF AUTISM
    Thomas Wassink; Fiscal Year: 2006
    ..The WNT2 findings will be further examined in two-independent patient samples. ..
  20. Biomarker Genes in Mood Disorder: Lymphocyte and Brain
    MARQUIS VAWTER; Fiscal Year: 2006
    ..The potential use of biomarkers in lymphocytes will provide clinical researchers a tool to better address questions concerning diagnostic subgroups and treatment responders and non-responders. ..
  21. Genetics of Severe Systemic Lupus Erythematosus (SLE) defined by thrombocytopenia
    R Scofield; Fiscal Year: 2007
    ..Finally, Specific Aim 4 will assemble a new cohort of families multiplex for SLE so that linkages and associations as well as particular polvmorphisms can be prospectively confirmed. ..