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Case Reports
. 1997 Jun 13;70(3):222-8.
doi: 10.1002/(sici)1096-8628(19970613)70:3<222::aid-ajmg3>3.0.co;2-y.

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

S Eliez  1 , M A Morris, S Dahoun-Hadorn, C D DeLozier-Blanchet, A Gos, P Sizonenko, S E Antonarakis
Affiliations
Case Reports

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

S Eliez et al. Am J Med Genet. .

Abstract

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.

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