Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3

Autor:	S, Spranger, S, Schiller, A, Jauch, K, Wolff, I, Rauterberg-Ruland, D, Hager, G, Tariverdian, J, Tröger, G, Rappold
Rok vydání:	1999
Předmět:	Adult Homeodomain Proteins Male X Chromosome Mental Disorders Syndrome Deafness Bone and Bones Radiography Forearm Short Stature Homeobox Protein Seizures Child Preschool Humans Abnormalities Multiple Female Chromosome Deletion In Situ Hybridization Fluorescence Sex Chromosome Aberrations
Zdroj:	American journal of medical genetics. 83(5)
ISSN:	0148-7299
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 Léri-Weill syndrome. We discuss the phenotype in relationship to hitherto published cases with chromosomal aberrations and contiguous gene syndromes of Xp22.3.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::25fcd45ec1dd7bf4f75b4ab86d4a495b https://pubmed.ncbi.nlm.nih.gov/10232745 Zobrazit plný text záznamu Plný text