Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3 / Stephanie Spranger, Simone Schiller, Anna Jauch, Kathrin Wolff, Inge Rauterberg‐Ruland, Dieter Hager, Gholamali Tariverdian, Jochen Tröger, and Gudrun Rappold

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 Léri-Weill syndrome.We discuss the phenotype in relationship to hitherto published cases with chromosomal aberrations and contiguous gene syndromes of Xp22.3. Am. J. Med. Genet. 83:367-371, 1999. © 1999 Wiley-Liss, Inc.

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Persons: Spranger, Stephanie [Author]; Wöginger, Simone [Author]; Jauch, Anna [Author]; Wolff, Kathrin [Author]; Rauterberg-Ruland, Inge [Author]; Hager, Dieter [Author]; Tariverdian, Gholamali [Author]; Tröger, Jochen [Author]; Rappold, Gudrun [Author]
Format: eArticle
Language(s):English
Publication:05 April 1999
Part of:American journal of medical genetics 83(1999), 5, Seite 367-371
Subjects:chondrodysplasia punctata
contiguous gene syndrome
Léri-Weill syndrome
Madelung deformity
short stature
Notes:Gesehen am 04.12.2020
Physical description:5
ISSN:1096-8628
DOI:10.1002/(SICI)1096-8628(19990423)83:5<367::AID-AJMG5>3.0.CO;2-K