Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13.
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.
Eliez
S
S
Division of Medical Genetics, Geneva University Medical School and Hospital, Switzerland.
Morris
M A
MA
Dahoun-Hadorn
S
S
DeLozier-Blanchet
C D
CD
Gos
A
A
Sizonenko
P
P
Antonarakis
S E
SE
D000293:Adolescent; D015139:Blotting, Southern; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004276:DNA, Satellite; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic; D014998:Y Chromosome
D004276:DNA, Satellite