Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

✍ Scribed by Eliez, Stephan; Morris, Michael A.; Dahoun-Hadorn, Sophie; DeLozier-Blanchet, C. Dawn; Gos, Arnaud; Sizonenko, Pierre; Antonarakis, Stylianos E.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 351 KB
• Volume: 70
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970613)70:3<222::aid-ajmg3>3.0.co;2-y

✦ Synopsis

We describe a 17-year-old girl with mild Prader-Willi syndrome (PWS) due to 15q11-q13 deletion. The deletion occurred on a paternal chromosome 15 already involved in a translocation, t(Y;15)(q12;p11), the latter being present in five other, phenotypically normal individuals in three generations. This appears to be the first case of PWS in which the causative 15q11-q13 deletion occurred on a chromosome involved in a familial translocation, but with breakpoints considerably distal to those of the familial rearrangement. The translocation could predispose to additional rearrangements occurring during meiosis and/or mitosis or, alternatively, the association of two cytogenetic anomalies on the same chromosome could be fortuitous. Am. J. Med. Genet. 70: 222-228, 1997.