Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes

✍ Scribed by Schwartz, S. ;Max, S. R. ;Panny, S. R. ;Cohen, M. M. ;Optiz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1985
• Tongue: English
• Weight: 537 KB
• Volume: 20
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320200208

✦ Synopsis

A deletion of the long arm of chromosome 15 (usually involving bands 15qll-q12) has been seen in approximately 50% of Prader-Willi syndrome (PWS) patients [Ledbetter et al, 19821. However, 14 patients with non-PWS (or atypical PWS) phenotype with 15q deletion indicate great clinical variability. A deletion was found in a propositus with a de novo translocation [45,XY, +rec(15;22)(22pter + 22q13.2:: 15q14 + 15qter)], who had anomalies not normally observed in PWS patients, Activities of several enzymes mapped to the involved chromosomes were studied in the patient and control individuals. A 50% decrease in the level of arylsulfatase-A confirmed a small deletion in 22q(22q13.2 + qter), and additional studies localized more precisely the loci for a-mannosidase (cytoplasmic) and 0-galactosidase.