X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updatePeter G Barth
Department of Pediatric Neurology, Emma Children s Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands
Am J Med Genet A 126:349-54. 2004
..The apex of the survival curve around puberty and the emergence of adults may reflect a dynamic shift towards increased survival. This trend is exemplified in a large pedigree previously published...
- Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion
A Micheil Innes
Clin Dysmorphol 14:209-10. 2005
- Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
C M Armour
J Med Genet 45:249-54. 2008
..CONCLUSION: This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC...
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltran-Valero de Bernabe
Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Am J Hum Genet 71:1033-43. 2002
..The implication of O-mannosylation in MEB and WWS suggests new lines of study in understanding the molecular basis of neuronal migration...
- DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
Bilian Jin
Department of Biochemistry and Molecular Biology, UF Shands Cancer Center Program in Cancer Genetics, Epigenetics, and Tumor Virology, University of Florida, PO Box 100245, Gainesville, FL 32610, USA
Hum Mol Genet 17:690-709. 2008
..Therefore, this study provides important new insights into the role of DNMT3B in modulating gene expression and chromatin structure and reveals new connections between DNMT3B and polycomb-mediated repression...
- Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
Melissa A Fath
Department of Pediatrics, Division of Medcal Genetics, University of Iowa, Iowa City, IA 52242, USA
Hum Mol Genet 14:1109-18. 2005
..These observations suggest that the complete absence of MKKS leads to BBS while the MKS phenotype is likely to be due to specific mutations...
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente
Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Nat Genet 42:619-25. 2010
..These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders...
- CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
M C J Jongmans
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
J Med Genet 43:306-14. 2006
..Specific behavioural problems, including autistic-like behaviour, have been described. The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome...
- Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
E Parrini
Research Institute, I.R.C.C.S, Stella Maris Foundation, University of Pisa, Italy
Brain 129:1892-906. 2006
..Statistical analysis considering all 42 mutations described so far identifies a hotspot region for PNH in the actin-binding domain (P < 0.05)...
- Oesophageal atresia
Lewis Spitz
Department of Paediatric Surgery, Institute of Child Health, University College, London, UK
Orphanet J Rare Dis 2:24. 2007
..Infants weighing over 1500 g and having no major cardiac problem should have a near 100% survival, while the presence of one of the risk factors reduces survival to 80% and further to 30-50% in the presence of both risk factors...
- Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
Laura Bernardini
Casa Sollievo della Sofferenza Hospital, IRCCS, S San Giovanni Rotondo, Italy
Orphanet J Rare Dis 4:25. 2009
..This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood...
- Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
Paweł Stankiewicz
Dept of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 84:780-91. 2009
..These differences reveal the phenotypic consequences of gene alterations in cis...
- Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
Tjitske Kleefstra
Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Am J Hum Genet 79:370-7. 2006
..These results establish that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome...
- Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization
S Narisawa
The Burnham Institute, La Jolla Cancer Research Center, La Jolla, CA 92037, USA
J Pathol 193:125-33. 2001
..While abnormal metabolism of vitamin B6 explains many of the abnormalities in this mouse model of infantile hypophosphatasia, it is not the basis of the abnormal mineralization that characterizes this disease...
- Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
Karine Morcel
CNRS UMR 6061, Institut de Génétique et Développement de Rennes, Universite de Rennes 1, IFR140 GFAS, Faculte de Medecine, Rennes, France
Orphanet J Rare Dis 2:13. 2007
..As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment...
- Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
Claire Turner
Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Southampton, UK
Eur J Hum Genet 13:716-20. 2005
..Using BAC fluorescence in situ hybridisation, there was no evidence of the duplication of 8p recently reported by Milunsky and Huang. We conclude that the cause of KS has yet to be established...
- Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes
L A Katz
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
Am J Med Genet A 130:277-83. 2004
..We did not find any mutations in exon 5 of FLNA in 179 omphalocele cases studied...
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL associationElisabeth M de Jong
Department of Pediatric Surgery, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
Birth Defects Res A Clin Mol Teratol 82:92-7. 2008
..The full phenotype of patients with EA/TEF and other anomalies of the VACTERL spectrum of defects association is not well described in the literature...
- Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
Heidi A Heilstedt
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 72:1200-12. 2003
..Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation...
- CHARGE syndrome: report of 47 cases and review
A L Tellier
Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant, INSERM U 393, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet 76:402-9. 1998
....
- VATER non-random association of congenital malformations: study based on data from four malformation registers
K Kallen
Tornblad Institute, University of Lund, Biskopsgatan 7, 223 62 Lund, Sweden
Am J Med Genet 101:26-32. 2001
..In the search for risk factors, a strict definition of the VATER association is needed in order to not dilute the study material with irrelevant cases. The present study provides such strict inclusion criteria...
- A case of congenital high airway obstruction syndrome managed by ex utero intrapartum treatment: case report and review of the literature
Fumi Shimabukuro
Department of Obstetrics and Gynecology, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan
Am J Perinatol 24:197-201. 2007
..However, management of the airway, particularly with regard to long-term reconstruction in children with CHAOS, remains challenging...
- Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
Jennifer J Johnston
J Med Genet 44:e59. 2007
..We suggest that high-density CGH array analysis should replace FISH analysis for assessment of deletions and duplications in patients with contiguous gene syndromes caused by variable deletions...
- Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
Laurence Faivre
Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
Am J Med Genet A 123:204-7. 2003
..010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS...
- Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues
Megan E Tucker
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46260, USA
Am J Med Genet A 143:505-17. 2007
..We also discuss a variety of counseling issues including long-term survival, reproductive capacity of individuals with mosaic trisomy 18, and recurrence risks...
- A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence
Guochun Li
Genomics Institute of the Novartis Research Foundation, San Diego, California, United States of America
PLoS Genet 3:e8. 2007
....
- Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
Elke M Botzenhart
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
Hum Mutat 28:204-5. 2007
..The latter is associated with anal, ear, hand, and renal manifestations, indicating that the glutamine-rich domain is not required for typical TBS...
- Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion
Piranit N Kantaputra
Faculty of Dentistry, Department of Pediatric Dentistry, Chiang Mai University, Chiang Mai, Bangkok, Thailand
Am J Med Genet A 140:2598-602. 2006
..Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation...
- Diagnosis of Pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregnancy. A case report
Edward Araujo Júnior
Training Center of Ultrasonography of São Paulo CETRUS, Sao Paulo, Brazil
Fetal Diagn Ther 21:544-7. 2006
....
- Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes
Wiktor Borozdin
, , Freiburg, Germany
Am J Med Genet A 140:1880-6. 2006
- Early diagnosis of the papillorenal syndrome by optic disc morphology
Arif O Khan
Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
J Neuroophthalmol 25:209-11. 2005
..We report an infant whose characteristic fundus findings led to the early diagnosis of the papillorenal syndrome before the potential development of renal dysfunction...
- The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients
G Van Buggenhout
Center for Human Genetics, University of Leuven, Heresraat 49, 3000 Leuven, Belgium
Eur J Med Genet 48:276-89. 2005
..A potential commonly deleted interval of the three patients with behavioral problems, excluding the deletion in the patient without behavioral problems, is at most 0.5 Mb in size harboring only two genes...
- Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
Merce Garcia-Barcelo
Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China
Clin Chem 52:46-52. 2006
..The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in HLXB9...
- Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging
Peter Oppelt
Department of Gynecology and Obstetrics, University Hospital, Universitätsstrasse 21 23, D 91054 Erlangen, Germany
Hum Reprod 21:792-7. 2006
..This retrospective study examined the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKH syndrome...
- A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome
Masao Murakami
Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, 75390 9148, USA
Proc Natl Acad Sci U S A 102:18034-9. 2005
..These findings reveal key roles for TAZ and YAP in the control of TBX5-dependent transcription and suggest the involvement of these coactivators in cardiac and limb development...
- Truncus arteriosus associated with interrupted aortic arch in 50 neonates: a Congenital Heart Surgeons Society study
Igor E Konstantinov
The Hospital for Sick Children, Toronto, Ontario, Canada
Ann Thorac Surg 81:214-22. 2006
..CONCLUSIONS: The combination of IAA and TA carries high early mortality, with high risk of reinterventions in survivors. One stage repair of both TA and IAA is the optimal management...
- Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
Wiktor Borozdin
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
Hum Mutat 27:211-2. 2006
..It therefore seems that there is a different contribution of SALL1 gene function to mouse and human embryonic development...
- The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches
Daniel Guerrier
CNRS UMR 6061, Genetique et Developpement, Universite de Rennes 1, Groupe IPD, IFR140 GFAS, Faculte de Medecine, Rennes, France
J Negat Results Biomed 5:1. 2006
..Expression and/or function defects of one or several HOX genes may account for this syndrome...
- Clinical characteristics and natural history of Freeman-Sheldon syndrome
David A Stevenson
Pediatrics, University of Utah, Salt Lake City, Utah, USA
Pediatrics 117:754-62. 2006
..Such intensive therapeutic demands differ substantially from most other congenital contracture syndromes. These findings underscore the necessity of making an accurate diagnosis...
- BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
Kendra W Kimberley
Department of Pediatrics Division of Genetics, University of Nevada School of Medicine, Las Vegas, NV, USA
BMC Med Genet 7:46. 2006
..Recent studies have focused on possible duplications in the 8p22-8p23.1 region but no consensus has been reached...
- What you can learn from one gene: GLI3
L G Biesecker
National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892 4472, USA
J Med Genet 43:465-9. 2006
..These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems...
- New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands
Ralph J Florijn
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
Eur J Hum Genet 14:986-90. 2006
..We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders...
- Meckel syndrome: genetics, perinatal findings, and differential diagnosis
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
Taiwan J Obstet Gynecol 46:9-14. 2007
..The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly...
- Joubert syndrome with atrial septal defect and persistent left superior vena cava
Muzaffer Elmali
Department of Radiology, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey
Diagn Interv Radiol 13:94-6. 2007
..We present a 7-month-old girl with Joubert syndrome in whom MRI showed the typical features of this condition. She also had polydactyly, atrial septal defect, and persistent left superior vena cava...
- Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication
S Yu
Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, Australia
Clin Genet 73:160-4. 2008
..Review at 2 months of age revealed normal growth and development. Our findings broaden the understanding of 22q11.2 duplication syndrome and demonstrate that MLPA is sensitive for detection and sizing of 22q11.2 microduplications...
- Risk of vascular anomalies with Down syndrome
Arin K Greene
Vascular Anomalies Center and Department of Plastic Surgery, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Pediatrics 121:e135-40. 2008
..We hypothesized that vascular anomalies, including infantile hemangioma, an angiogenesis-dependent vascular tumor, and vascular malformations might be similarly inhibited in patients with Down syndrome...
- Genotype-phenotype correlations in MYCN-related Feingold syndrome
Carlo L M Marcelis
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 29:1125-32. 2008
..We suggest that the presence of brachymesophalangy and toe syndactyly in combination with microcephaly is enough to justify MYCN analysis...
- 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
Shay Ben-Shachar
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 82:214-21. 2008
..2 between LCR22-4 and LCR22-6, although they share some characteristic features with DGS/VCFS, represent a novel genomic disorder distinct genomically and clinically from the well-known DGS/VCF deletion syndromes...
- Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Jonna Tallila
National Institute of Health and Welfare, Public Health Genomics Unit and FIMM, Institute for Molecular Medicine Finland, Helsinki 00290, Finland
Hum Mutat 30:E813-30. 2009
..Based on this study, mutations play a role in the clinical phenotype, given that the same allelic combination of mutations has never been reported in two clinically distinct syndromes...
- Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development
Badam Enkhmandakh
Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT 06032, USA
Proc Natl Acad Sci U S A 106:181-6. 2009
....
- Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress
Chloé Quelin
Service de Genetique Medicale, CHU Hopital Sud, Rennes Cedex 2, France
Eur J Med Genet 52:41-6. 2009
..1 is implicated in lens cell proliferation and differentiation for congenital cataract; GPC5 in 13q32 is mainly expressed in the mesenchyme of the developing limb bud for upper limb anomalies...
- Follow-up and risk of tumors in overgrowth syndromes
Ricardo Gracia Bouthelier
Department of Pediatric Endocrinology, Hospital Universitario La Paz, Autonoma University, Madrid, Spain
J Pediatr Endocrinol Metab 18:1227-35. 2005
..In this article we briefly review some aspects of the current knowledge of OGS and tumors, emphasizing the follow-up of these disorders...
- A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis
Louise Chappell
School of Medicine, University of Leeds, Leeds, UK
Am J Med Genet A 146:1713-7. 2008
....
- Genomic imbalances associated with mullerian aplasia
C Cheroki
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Brazil
J Med Genet 45:228-32. 2008
..A number of different syndromes have been associated with MA, and in most cases its aetiology remains poorly understood. Objective and..
- Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
Charles Shaw-Smith
Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
Eur J Med Genet 53:6-13. 2010
..This article reviews these new data alongside other genetic causes of syndromic esophageal atresia, and also highlights information from relevant mouse models, particularly those for genes in the Sonic Hedgehog pathway...
- C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome
Osnat Konen
Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada
Pediatr Radiol 38:766-71. 2008
..Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability...
- Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
In Suk Kim
Department of Laboratory Medicine, Gyeong Sang National University Hospital, Jinju, South Korea
J Hum Genet 52:698-701. 2007
..This study confirms that familial CS patients in Korea have the same genetic background as other ethnicities and reaffirms the phenotype variability among CS patients with the same mutation...
- A case of cerebello-oculo-renal syndrome with situs inversus totalis: a new phenotype
Secil Aydinoz
Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey
J Child Neurol 22:204-7. 2007
..Imaging studies showed molar tooth sign, which was compatible with cerebello-oculo-renal syndromes and situs inversus totalis...
- Omphalocele, bladder exstrophy, imperforate anus, spine defects complex, and bilateral cleft lip and palate in one product of a triplet pregnancy obtained by in vitro fertilization: a case report
E Yokoyama
Department of Human Genetics, ,
Am J Med Genet A 143:1933-5. 2007
- Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers
L Giordano
Division of Child Neurology, Spedali Civili di Brescia, Brescia, Italy
Am J Med Genet A 149:1511-5. 2009
..No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity...
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Miriam Iannicelli
Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
Hum Mutat 31:E1319-31. 2010
..These exons encode for a region of unknown function in the extracellular domain of meckelin...
- A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
Robert P Erickson
Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
Am J Med Genet A 143:3302-8. 2007
..2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome...
- Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication
Laura Bernardini
CSS Hospital, IRCSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
Am J Med Genet A 143:2937-43. 2007
....
- Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
P Sanyanusin
Department of Biochemistry, University of Otago, Dunedin, New Zealand
Nat Genet 9:358-64. 1995
..The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development...
- Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?
Milene Mulatinho
Universidade Federal do Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil
Am J Med Genet A 146:2284-90. 2008
..2-p32.3), we suggest that these patients may have a new microdeletion syndrome that may have gone undetected because of its location in a G-negative band. However, the condition can easily be identified by array-CGH...
- Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype
Sarah T South
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Am J Med Genet A 146:2691-7. 2008
....
- Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes
Leslie Domenici Kulikowski
Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
Am J Med Genet A 146:2663-7. 2008
..We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature...
- Spectrum of the acrocallosal syndrome
Rainer Koenig
Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany
Am J Med Genet 108:7-11. 2002
..Cranial cysts were also seen in 10/34 published cases of ACS. Thus, intracerebral cysts are a common finding in ACS and may serve in differentiating ACS from Greig cephalopolysyndactyly syndrome...
- Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome
S Kantarci
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
Am J Med Genet A 140:17-23. 2006
..12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH...
- A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review
Winnie Courtens
Department of Human Genetics, University Hospital St Luc UCL, Brussels, Belgium
Clin Dysmorphol 16:231-9. 2007
..We review the clinical phenotype of these patients. We suggest that patients with a subterminal (11q24.2/25-qter) deletion may present with features of the well-known phenotype of terminal 11q deletion or Jacobsen syndrome...
- Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia
Germana Casaccia
Neonatal Surgery Unit, Department of Medical and Surgical Neonatology, Bambino Gesu Pediatric Hospital, Rome, Italy
Birth Defects Res A Clin Mol Teratol 76:210-3. 2006
..WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present...
- Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Bjorn Menten
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
J Med Genet 44:264-8. 2007
..The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities...
- Clinical features and management issues in Mowat-Wilson syndrome
Margaret P Adam
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
Am J Med Genet A 140:2730-41. 2006
..MWS should be considered in any individual with severely impaired or absent speech, especially in the presence of seizures and anomalies involving the pulmonary arteries (particularly pulmonary artery sling) or pulmonary valves...
- Craniofacial cephalometric morphology in children with CATCH 22 syndrome
A Heliövaara
Department of Plastic Surgery, Cleft Center, Helsinki University Central Hospital, HUS, Finland
Orthod Craniofac Res 9:186-92. 2006
..To evaluate cephalometrically the craniofacial, pharyngeal and cervical morphology in children with CATCH 22, and to compare and quantify the findings with age- and sex-matched controls...
- Prenatal sonographic diagnosis of Malpuech syndrome
Clare Turnbull
North East Thames Regional Genetics Centre, Great Ormond Street Hospital for Children, Great Ormond Street, London
Prenat Diagn 26:1121-3. 2006
..Post-natal examination of the neonate confirmed the diagnosis of MS. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome...
- Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
Agatino Battaglia
Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
Pediatrics 121:404-10. 2008
..Our aim was to delineate the natural history of deletion 1p36 and develop complete and accurate information with which to answer families' questions in the clinical setting...
- The tale of a nail sign in chromosome 4q34 deletion syndrome
Julie Vogt
Clinical Genetics Unit, Birmingham Women s Hospital, Edgbaston, West Midlands, UK
Clin Dysmorphol 15:127-32. 2006
..All cases with this characteristic fifth finger anomaly appear to have deletions involving 4q34...
- Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
Ivón Cuscó
Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain
BMC Med Genet 9:27. 2008
..A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown...
- Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
Santhosh Girirajan
Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, Virginia 23298, USA
Genet Med 8:417-27. 2006
..CONCLUSION: Although RAI1 is the primary gene responsible for most features of SMS, other genes within 17p11.2 contribute to the variable features and overall severity of the syndrome...
- Screening of patients at risk for 22q11 deletion
Ingeborg Barisic
Department of Medical Genetics and Department of Cardiology, Children s University Hospital, Zagreb, Croatia
Coll Antropol 32:165-9. 2008
..It should be also considered in patients presenting only with dysmorphic traits suggestive of del 22q11.2, while screening in patients with cleft palate is not warranted...
- Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization
Joseph T C Shieh
Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305-5208, USA
Am J Med Genet A 140:1267-73. 2006
....
- 22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil
Rafael F M Rosa
Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre CHSCPA, Porto Alegre, RS, Brazil
Am J Med Genet A 146:1655-61. 2008
..It is possible that 22q11DS patients with a severe CHD could have died before having a chance to access a tertiary hospital, leading to an underestimate of its frequency...
- [Molecular diagnosis of CHARGE syndrom]
Anne Marie Bisgaard Pedersen
Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling
Ugeskr Laeger 169:402-6. 2007
..CHARGE syndrome should be considered in children with facial asymmetry, colobomas or choanal atresia; ear abnormalities are of great diagnostic value...
- A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations
Sascha Vermeer
Department of Human Genetics, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Clin Dysmorphol 14:203-6. 2005
..This report emphasizes that many different combinations of features may be seen in PHACES syndrome...
- Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations
Fabienne Giuliano
Unite de Genetique Medicale, hopital l Archet II, Nice, France
Am J Med Genet A 126:99-103. 2004
..The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy...
- Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome
C Zweier
J Med Genet 40:601-5. 2003
- [Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations]
J Eiris-Punal
Departamento de Pediatria, Servicio de Neuropediatria, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Espana
Rev Neurol 37:601-7. 2003
..The microdeletion 22q11.2 affects 1/4000 live births and constitutes the most frequent interstitial chromosomal alteration in humans. It is involved in a heterogeneous series of phenotypic expressions...
- Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association
Jeffrey E Ming
Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 123:249-52. 2003
..Thus, Kabuki syndrome should be considered in patients with coloboma if other features consistent with this condition are present, and follow-up evaluations are indicated for establishing the proper diagnosis...
- Long-term follow-up of three individuals with Kabuki syndrome
Stavit A Shalev
Institute of Genetics, Ha Emek Medical Center, Afula, Israel
Am J Med Genet A 125:191-200. 2004
..Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed...
- Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation
I Rost
J Med Genet 41:e26. 2004
- 9q34.3 deletion syndrome in three unrelated children
Mie Iwakoshi
Nishinomiya Municipal Wakaba-en, Nishinomiya, Japan
Am J Med Genet A 126:278-83. 2004
..Other frequent abnormalities were cardiac abnormalities, cryptorchidism or hypospadias, and abnormal toes. These findings are characteristic enough to be a clinically recognizable syndrome...
- 3D analysis of facial morphology
Peter Hammond
Eastman Dental Institute, UCL, London, United Kingdom
Am J Med Genet A 126:339-48. 2004
..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html...
- A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation
D Genevieve
J Med Genet 41:e77. 2004
- Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes
Teresa Mattina
Dipartimento di Pediatria, University of Catania, Via S. Sofia 78, Catania I-95123, Italy
Gene 333:111-9. 2004
..We propose that the alteration in the replication/nuclear location pattern of the non-deleted TDR22 indicates an altered gene regulation hence an altered transcritpion in DGS/VCFS...
- [Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders]
W Briegel
Klinik fur Kinder und Jugendpsychiatrie und psychotherapie, Bezirkskrankenhaus Landshut
Z Kinder Jugendpsychiatr Psychother 32:107-15. 2004
..Clinical criteria for genetic examinations on 22q11.2 deletion in children and adolescents with psychiatric disorders are defined. Until now 22q11.2 deletion is underdiagnosed in this population--despite of its clinical relevance...
- [Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype]
O Blanco-Barca
, , , Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain
Rev Neurol 38:1038-42. 2004
....
- Schinzel-Giedion syndrome: a further cause of West syndrome
Salvatore Grosso
Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, 53100 Siena, Italy
Brain Dev 25:294-8. 2003
..The seizures appeared extremely refractory to several anticonvulsive treatments. In conclusion, we believe that SGS should be included among the causes of secondary West syndrome...
- DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
Oliver Bartsch
Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universitat Dresden, Dresden, Germany
Am J Med Genet A 117:1-5. 2003
..This study may indicate a better intellectual and/or behavioral outcome with the proximal vs. the common 22q11 deletion, rather than a chance finding...
- Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review
M L Leonardi
Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina 29425, USA
Am J Med Genet 102:237-42. 2001
....
- Further clinical delineation in trisomy 1q32 syndrome
I Nuño-Arana
Division de Genetica, Centro de Investigacion Biomedica de Occidente, CMNO, IMSS, Doctorado en Genetica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
Ann Genet 44:175-7. 2001
..The purpose of this paper is to describe the first case of a translocation involving 1q and 18p chromosome breakpoints. Additional findings detected in the propositus permit us a further delineation of the trisomy 1q syndrome...
- 18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype
V B Rao
Institute of Immunohaematology (ICMR, MRCP (UK, MRCP (Ire, FRC Path (London, Deputy Director, 13th Floor, New Multistoreyed Bldg, KEM Hospital Campus, Parel, Mumbai-400 012, Mumbai, India
Ann Genet 44:187-90. 2001
..Since the spectrum of clinical expression is similar to that is seen in 18p(-) syndrome it is suggested that not only whole of 18p but part of chromosome no. 18 proximal to 18 q 11.2 may also be involved in this phenotype...
