title: Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13.
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.
authors.affiliation: Division of Medical Genetics, Geneva University Medical School and Hospital, Switzerland.
authors.forename: S
authors.initials: S
authors.lastname: Eliez
authors.forename: M A
authors.initials: MA
authors.lastname: Morris
authors.forename: S
authors.initials: S
authors.lastname: Dahoun-Hadorn
authors.forename: C D
authors.initials: CD
authors.lastname: DeLozier-Blanchet
authors.forename: A
authors.initials: A
authors.lastname: Gos
authors.forename: P
authors.initials: P
authors.lastname: Sizonenko
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: 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
chemical_list: D004276:DNA, Satellite