L�ri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3

Autor:	Gudrun A. Rappold, Jochen Tröger, Inge Rauterberg-Ruland, Simone Schiller, Anna Jauch, Gholamali Tariverdian, Kathrin Wolff, Dieter Hager, Stephanie Spranger
Rok vydání:	1999
Předmět:	Genetics medicine.medical_specialty Breakpoint Biology medicine.disease Contiguous gene syndrome Short stature Osteochondrodysplasia Endocrinology Internal medicine Peroxisomal disorder Steroid sulfatase medicine Chondrodysplasia punctata medicine.symptom Genetics (clinical) X chromosome
Zdroj:	American Journal of Medical Genetics. 83:367-371
ISSN:	1096-8628 0148-7299
DOI:	10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co;2-k
Popis:	We report on a mother and her 5-year old son, both with a terminal deletion of the short arm of the X chromosome. By molecular genetic analysis the breakpoint was located distal to steroid sulfatase gene. The boy manifested, due to nullisomy of this region, short stature (SHOX), chondrodysplasia punctata (ARSE), and mental retardation (putative mental retardation gene MRX 49). Short stature is present in mother and son, but both also had bilateral Madelung deformity, a key finding in the Leri-Weill syndrome. We discuss the phenotype in relationship to hitherto published cases with chromosomal aberrations and contiguous gene syndromes of Xp22.3.
Databáze:	OpenAIRE
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