sex chromosome aberrations

Summary

Summary: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.

Top Publications

  1. Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, et al. A new look at XXYY syndrome: medical and psychological features. Am J Med Genet A. 2008;146A:1509-22 pubmed publisher
    ..2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized...
  2. Mekkawy M, Kamel A, El Ruby M, Mohamed A, Essawi M, Soliman H, et al. Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD). Am J Med Genet A. 2012;158A:1594-603 pubmed publisher
    ..This study emphasizes the importance of FISH analysis in the diagnosis of patients with DSD as well as the establishment of the relationship between phenotype and karyotype...
  3. Mitra A, Dada R, Kumar R, Gupta N, Kucheria K, Gupta S. Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. Indian J Med Res. 2008;127:124-32 pubmed
    ..Feasibility of developing a simplified multiplex PCR for screening of the Y chromosome microdeletions has been explored...
  4. Otter M, Schrander Stumpel C, Curfs L. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010;18:265-71 pubmed publisher
    ..Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc...
  5. Stochholm K, Juul S, Gravholt C. Mortality and incidence in women with 47,XXX and variants. Am J Med Genet A. 2010;152A:367-72 pubmed publisher
    ..Better delineation of the clinical phenotype of 47,XXX is needed; available information does not readily explain the increased mortality...
  6. Plaseski T, Noveski P, Trivodalieva S, Efremov G, Plaseska Karanfilska D. Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. Genet Test. 2008;12:595-605 pubmed publisher
    ..We conclude that multiplex QF-PCR is a rapid, simple, reliable, and inexpensive method that can be used as a first-step genetic analysis in infertile/subfertile patients...
  7. Boks M, de Vette M, Sommer I, van Rijn S, Giltay J, Swaab H, et al. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Schizophr Res. 2007;93:399-402 pubmed
    ..Nevertheless, these findings provide further support for the role of the X-chromosome in the susceptibility to psychiatric disorders in general and psychotic disorders in particular...
  8. Stemkens D, Broekmans F, Kastrop P, Hochstenbach R, Smith B, Giltay J. Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins. Am J Med Genet A. 2007;143A:1906-11 pubmed
    ..These data support the view that genes on Xp cause increased body height and genes on Xq cause infertility in KS. To our knowledge this is the first report on a heterokaryotypic monozygotic twin with a variant KS...
  9. Sun F, Mikhaail Philips M, Oliver Bonet M, Ko E, Rademaker A, Turek P, et al. Reduced meiotic recombination on the XY bivalent is correlated with an increased incidence of sex chromosome aneuploidy in men with non-obstructive azoospermia. Mol Hum Reprod. 2008;14:399-404 pubmed publisher
    ..004) and YY (0.12% versus 0.03%, P = 0.04). There was a significant correlation between meiotic cells with zero MLH1 foci in the sex body and total sex chromosome disomy (XX + YY + XY) in sperm from men with NOA (r = 0.79, P = 0.036)...

More Information

Publications62

  1. Hoffman T, Vossough A, Ficicioglu C, Visootsak J. Brain magnetic resonance imaging findings in 49,XXXXY syndrome. Pediatr Neurol. 2008;38:450-3 pubmed publisher
  2. Plotton I, Ducros C, Pugeat M, Morel Y, Lejeune H. Transmissible microdeletion of the Y-chromosome encompassing two DAZ copies, four RBMY1 copies, and both PRY copies. Fertil Steril. 2010;94:2770.e11-6 pubmed publisher
    ..To study a transmissible partial AZFb and -c microdeletion...
  3. Zhang J, Li P, Yu Q, Chen H, Li J, He Y. Development of a multiplex quantitative fluorescent PCR assay for identification of rearrangements in the AZFb and AZFc regions. Mol Hum Reprod. 2008;14:371-6 pubmed publisher
    ..Eleven types of rearrangement in AZFb and AZFc regions were well discriminated with QF-PCR. In conclusion, QF-PCR is a simple and reliable method to detect rearrangements in AZFb and AZFc...
  4. Perry M, Chen X, McAuliffe M, MAITY A, DeLoid G. Semi-automated scoring of triple-probe FISH in human sperm: methods and further validation. Cytometry A. 2011;79:661-6 pubmed publisher
    ..These methods should be replicated in larger clinic populations to arrive at stable estimates of aneuploidy frequency in men who are members of subfertile couples. © 2011 International Society for Advancement of Cytometry...
  5. Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Correlation of intercentromeric distance, mosaicism, and sexual phenotype: molecular localization of breakpoints in isodicentric Y chromosomes. Am J Med Genet A. 2011;155A:2705-12 pubmed publisher
    ..We also demonstrate that patients with an intercentromeric distance greater than 20 Mb on their idic(Y) are at increased risk of having a female sexual phenotype...
  6. Bishop D, Jacobs P, Lachlan K, Wellesley D, Barnicoat A, Boyd P, et al. Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child. 2011;96:954-9 pubmed publisher
    ..The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD. ..
  7. Shaffer B, Caughey A, Norton M. Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenat Diagn. 2006;26:667-71 pubmed
    ..To investigate the rate of pregnancy termination for various fetal aneuploidies, and to evaluate predictors of this choice...
  8. Tartaglia N, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010;5:8 pubmed publisher
    ..Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment...
  9. Rajender S, Rajani V, Gupta N, Chakravarty B, Singh L, Thangaraj K. SRY-negative 46,XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod. 2006;12:341-6 pubmed
  10. Premi S, Srivastava J, Chandy S, Ahmad J, Ali S. Tandem duplication and copy number polymorphism of the SRY gene in patients with sex chromosome anomalies and males exposed to natural background radiation. Mol Hum Reprod. 2006;12:113-21 pubmed
    ..Copy number status of the other Y-linked loci is envisaged to augment DNA diagnostics facilitating genetic counselling to affected patients...
  11. Fodor F, Kamory E, Csokay B, Kopa Z, Kiss A, Lantos I, et al. Rapid detection of sex chromosomal aneuploidies by QF-PCR: application in 200 men with severe oligozoospermia or azoospermia. Genet Test. 2007;11:139-45 pubmed
    ..The QF-PCR method, along with Y chromosome microdeletion testing, can be used as a first-step genetic analysis in azoospermic or severely oligozoospermic patients for the rapid identification of sex chromosome aneuploidies...
  12. Ottesen A, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt C, et al. Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. Am J Med Genet A. 2010;152A:1206-12 pubmed publisher
    ..0 (-3.5 to -0.8) in 49,XXXXX (n = 3). Height increased with an increasing number of extra X or Y chromosomes, except in males with five, and in females with four or five sex chromosomes, consistent with a nonlinear effect on height...
  13. Hristova R, Ko E, Greene C, Rademaker A, Chernos J, Martin R. Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia. Biol Reprod. 2002;66:1781-3 pubmed
    ..Thus, this study indicates that infertile men with poorly motile sperm but normal concentration have a significantly increased frequency of sperm chromosome abnormalities...
  14. Lammer E, Punglia D, Fuchs A, Rowe A, Cotter P. Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome. Clin Dysmorphol. 2001;10:141-4 pubmed
    ..2-->qter) at the distal short arm (Xp22.3). The proband has features of the male Prada-Willi syndrome phenotype that have not previously been reported in other males with duplication of Xq27-->qter...
  15. Cheng S, Rauen K, Pinkel D, Albertson D, Cotter P. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am J Med Genet A. 2005;135:308-13 pubmed
    ..Mental, psychomotor and growth retardation, as well as, craniofacial anomalies, muscle hypotonia, hypoplastic genitalia, cryptorchidism, feeding difficulties, and endocrine dysfunction are all significant issues in these individuals...
  16. Patsalis P, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, et al. Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A. 2005;135:145-9 pubmed
    ..Furthermore, this study shows a possible association of these deletions with Y-chromosome instability...
  17. Holland C. 47,XXX in an adolescent with premature ovarian failure and autoimmune disease. J Pediatr Adolesc Gynecol. 2001;14:77-80 pubmed
    ..Premature ovarian failure (POF) may be idiopathic or may be associated with genetic or autoimmune disorders. The 47,XXX karyotype has been associated with POF and other genitourinary anomalies...
  18. Goswami R, Goswami D, Kabra M, Gupta N, Dubey S, Dadhwal V. Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. Fertil Steril. 2003;80:1052-4 pubmed
    ..To determine the prevalence of triple X females among patients with premature ovarian failure and to describe the clinical features of the syndrome...
  19. Linden M, Bender B. Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet. 2002;110:11-8 pubmed
    ..The study provides new information to health professionals counseling families faced with prenatal diagnosis of SCA...
  20. Lachlan K, Collinson M, Sandford R, van Zyl B, Jacobs P, Thomas N. Functional disomy resulting from duplications of distal Xq in four unrelated patients. Hum Genet. 2004;115:399-408 pubmed
    ..We have also narrowed the putative critical interval for X-linked spina bifida...
  21. Grosso S, Farnetani M, Di Bartolo R, Berardi R, Pucci L, Mostardini R, et al. Electroencephalographic and epileptic patterns in X chromosome anomalies. J Clin Neurophysiol. 2004;21:249-53 pubmed
    ..Although further studies are needed to validate these observations, they clearly confirm the strict relationship between X chromosome anomalies and epilepsy...
  22. Brun J, Gangbo F, Wen Z, Galant K, Taine L, Maugey Laulom B, et al. Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases. Prenat Diagn. 2004;24:213-8 pubmed
    ..To analyse the management of pregnancy after prenatal diagnosis of sex chromosome aneuploidy (SCA) and the factors influencing genetic counselling and parental decision...
  23. Wallerstein R, Musen E, McCarrier J, Aisenberg J, Chartoff A, Hutcheon R, et al. Turner syndrome phenotype with 47,XXX karyotype: further investigation warranted?. Am J Med Genet A. 2004;125A:106-7 pubmed
  24. Armstrong L, McGowan Jordan J, Brierley K, Allanson J. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet A. 2003;116A:71-6 pubmed
    ..We suggest that functional disomy of the duplicated X material, due to local escape from inactivation, may be responsible for the phenotype in the affected females...
  25. Van Steirteghem A, Bonduelle M, Devroey P, Liebaers I. Follow-up of children born after ICSI. Hum Reprod Update. 2002;8:111-6 pubmed
    ..These do not reveal obvious problems, but in future further comparison of matched cohorts of children and case-control studies are needed before final conclusions can be drawn...
  26. Kalantari P, Sepehri H, Behjati F, Ashtiani Z, Akbari M. Chromosomal studies in infertile men. Tsitol Genet. 2001;35:50-4 pubmed
    ..38%). We suggest that men with azoospermia should be considered for cytogenetic investigation and we report that "variants of the Y chromosome" have no influence on the sperm count (Million/ml) and fertility of men...
  27. Levron J, Aviram Goldring A, Madgar I, Raviv G, Barkai G, Dor J. Sperm chromosome abnormalities in men with severe male factor infertility who are undergoing in vitro fertilization with intracytoplasmic sperm injection. Fertil Steril. 2001;76:479-84 pubmed
    ..To investigate the potential paternal contribution to the risk of fetal chromosomal anomalies after intracytoplasmic sperm injection (ICSI)...
  28. Scher I, Ahmed A, Strong D, Steinberg A, Paul W. X-linked B-lymphocyte immune defect in CBA/HN mice. I. Studies of the function and composition of spleen cells. J Exp Med. 1975;141:788-803 pubmed
    ..The possible nature of this defect and the similarity of the immune defect in these mice to certain human X-linked immunodeficiency diseases are discussed...
  29. Thomas N, Collins A, Hassold T, Jacobs P. A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin. Eur J Hum Genet. 2000;8:805-8 pubmed
    ..This failure was not associated with the presence of an increase in recombination in the smaller Xq/Yq pseudoautosomal region (PAR 2) or with the presence of microdeletions within PAR 1...
  30. Shi Q, Martin R. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction. 2001;121:655-66 pubmed
    ..An increased risk of sperm aneuploidy was not observed in infertile men with poor sperm motility or in those with a normal karyotype and normal semen parameters...
  31. Swerdlow A, Hermon C, Jacobs P, Alberman E, Beral V, Daker M, et al. Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann Hum Genet. 2001;65:177-88 pubmed
  32. Siffroi J, Le Bourhis C, Krausz C, Barbaux S, Quintana Murci L, Kanafani S, et al. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod. 2000;15:2559-62 pubmed
    ..Moreover, two isodicentric Y chromosomes, classified as normal by cytogenetic methods, were detected. Therefore, Yq microdeletions may be associated with Y chromosomal instability leading to the formation of 45,XO cell lines...
  33. Patwardhan A, Brown W, Bender B, Linden M, Eliez S, Reiss A. Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes. Am J Med Genet. 2002;114:93-8 pubmed
    ..The alteration in amygdala volumes in individuals with a supernumerary X chromosome may provide a neuroanatomic basis for these findings...
  34. Stankiewicz P, Thiele H, Schlicker M, Cseke Friedrich A, Bartel Friedrich S, Yatsenko S, et al. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet A. 2005;138:11-7 pubmed
    ..Our findings further suggest that a dosage effect of SOX3 may to be responsible for a speech disorder in addition to short stature secondary to hypopituitarism...
  35. Bashamboo A, Rahman M, Prasad A, Chandy S, Ahmad J, Ali S. Fate of SRY, PABY, DYS1, DYZ3 and DYZ1 loci in Indian patients harbouring sex chromosomal anomalies. Mol Hum Reprod. 2005;11:117-27 pubmed
    ..This would augment genetic counselling to the affected couples. Prospects of this approach in the overall management of clinical cases with sex chromosome-related anomalies are discussed...
  36. Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, et al. The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenet Genome Res. 2002;99:276-84 pubmed
    ..One of the cases with severe MR and a complete FXD pattern neither lacked the XIST gene nor had uniparental X isodisomy, and we discuss the mechanism of the failure of XCI in this case...
  37. Mantovani V, Dondi E, Larizza D, Cisternino M, Bragliani M, Viggiani M, et al. Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?. Eur J Hum Genet. 2002;10:137-40 pubmed
    We investigated whether molecular defects in the CYP21 gene were detectable in two common sex chromosome aberrations, the Turner and the Klinefelter syndromes...
  38. Bahi Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gerard M, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49:1027-37 pubmed publisher
    ..So far, the electroclinical phenotype remains largely unknown and no clear genotype-phenotype correlations have been established...
  39. McLachlan R, Aitken R, Cram D, Krausz C, O Bryan M. Need for standardization and confirmation of STS deletions on the Y chromosome. Fertil Steril. 2008;90:463-4; author reply 464 pubmed publisher
  40. Karaer A, Karaer K, Ozaksit G, Ceylaner S, Percin E. Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss. Am J Obstet Gynecol. 2008;199:662.e1-5 pubmed publisher
    ..This study was undertaken to determine the prevalence of Y-chromosome microdeletions in couples with recurrent pregnancy loss (RPL) as compared with fertile couples...
  41. Gattringer C, Scheurecker C, Höpfl R, Muller H. Association between venous leg ulcers and sex chromosome anomalies in men. Acta Derm Venereol. 2010;90:612-5 pubmed publisher
    ..two cases of men, aged 46 and 23 years, with refractory chronic venous leg ulcers in association with sex chromosome aberrations: one with a 47,XXY/48,XXXY karyotype (Klinefelter syndrome) and the other with a 47,XYY karyotype (Jacob ..
  42. Tomomasa H, Iiyama T, Okada H. [Testicular germ cell tumor arising in the male with a chromosomal abnormality of 45,X/46,X,del(Y)]. Hinyokika Kiyo. 2012;58:49-52 pubmed
    ..Most of the long arm of the Y chromosome was missing. Prophylactic chemotherapy was performed. Treatment options for genetically high risk patients of testicular malignancies were discussed...
  43. Lee B, Kim S, Park J, Choi E, Kim D, Kim J, et al. Unusual maternal uniparental isodisomic x chromosome mosaicism with asymmetric y chromosomal rearrangement. Cytogenet Genome Res. 2014;142:79-86 pubmed publisher
    ..To our knowledge, this is the first confirmatory study to verify the origin of a sex chromosome mosaicism with a Y chromosome rearrangement...
  44. Xing Y, Ji X, Xiao B, Jiang W, Hu Q, Hu J, et al. [Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012;29:408-12 pubmed publisher
    ..To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients...
  45. Schwemmle C, Jungheim M, Ptok M. [Gonosomal trisomy syndrome. Five case reports and review of literature]. Laryngorhinootologie. 2013;92:725-31 pubmed publisher
    ..If the suspicion of hearing impairment as the cause of problems is not confirmed in a patient, ENT specialists should also consider SCA as a possible cause in the differential diagnosis. ..
  46. Hotaling J. Genetics of male infertility. Urol Clin North Am. 2014;41:1-17 pubmed publisher
    ..The role of hormones and epigenetics in evaluating the genetic reproductive potential of men is discussed briefly. A summary of what the field might look like in 2034 is presented. ..
  47. Abdalla E, Nabil K. Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome. Ophthalmic Genet. 2012;33:111-5 pubmed publisher
    ..To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome...
  48. Veyrunes F, Chevret P, Catalan J, Castiglia R, Watson J, Dobigny G, et al. A novel sex determination system in a close relative of the house mouse. Proc Biol Sci. 2010;277:1049-56 pubmed publisher
    ..Although relatively still unexplored, such an atypical sex chromosome system offers a unique opportunity to unravel new genetic interactions involved in the initiation of sex determination in mammals...
  49. Windbichler N, Papathanos P, Crisanti A. Targeting the X chromosome during spermatogenesis induces Y chromosome transmission ratio distortion and early dominant embryo lethality in Anopheles gambiae. PLoS Genet. 2008;4:e1000291 pubmed publisher
  50. Li L, Xia Y, Li X, Lu J, Ma M, Song L, et al. [An analysis on chromosome X, Y and 18 in the spermatozoa of asthenospermia patients by triple-color fluorescence in situ hybridization]. Zhonghua Nan Ke Xue. 2008;14:211-4 pubmed
    ..To analyze the numerical aberration of chromosome X, Y and 18 in the spermatozoa of asthenospermia patients by triple-color fluorescence in situ hybridization...
  51. Guedes A, Bianco B, Lipay M, Brunoni D, De Lourdes Chauffaille M, Verreschi I. Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: importance of the relative proportion of the 45,X line in gonadal tissue. Am J Med Genet A. 2006;140A:1871-5 pubmed
    ..5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%)...
  52. Serebrovska Z, Serebrovskaya T, Pyle R, Di Pietro M. Transmission of male infertility and intracytoplasmic sperm injection (mini-review). Fiziol Zh. 2006;52:110-8 pubmed
  53. Zeidan A, Phatak P. Acquired biclonal chromosome X aberrations without autosomal chromosomal anomalies in acute myeloid leukemia. Cancer Genet Cytogenet. 2008;181:125-30 pubmed publisher
    ..This case adds to the sparse body of literature regarding chromosome X aberrations in AML. More case reports are needed to further elucidate the importance of such aberrations...