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Prader-Willi syndrome phenotype in X chromosome anomalies: Evidence for a distinct syndrome

✍ Scribed by Stratakis, Constantine A.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 7 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981116)80:3<294::aid-ajmg24>3.0.co;2-f

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✦ Synopsis

Recently, two female patients with supernumerary small marker X chromosome and a Prader-Willi syndrome (PWS)-like phenotype were reported by Tu ¨mer et al. [1998]. Both patients presented during childhood with obesity that started around the third year of life, mental retardation, small hands and feet, and facial characteristics reminiscent of the PWS-associated face. Unlike most patients with PWS, these patients were born with a normal weight, lacked history of neonatal hypotonia, and had normal puberty and menses; they were found to have normal chromosome 15 and PWSlocus methylation studies ]. Both patients had a 46,XX/ 47,XX,mar(X) karyotype, indicating that their phenotype was the result of overexpression of genes contained in the supernumerary marker.

This observation raises once more the possibility that a gene or genes on the X chromosome may be responsible for a PWS-like phenotype in both males and females. The first patient with PWS-like features

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