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Scientific article
English

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

Published inAmerican journal of medical genetics, vol. 70, no. 3, p. 222-228
Publication date1997
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.

Keywords
  • Adolescent
  • Blotting, Southern
  • Chromosome Deletion
  • Chromosomes, Human, Pair 15
  • DNA, Satellite
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Pedigree
  • Prader-Willi Syndrome/ genetics
  • Translocation, Genetic
  • Y Chromosome
Citation (ISO format)
ELIEZ, Stéphan et al. Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13. In: American journal of medical genetics, 1997, vol. 70, n° 3, p. 222–228. doi: 10.1002/(sici)1096-8628(19970613)70:3<222::aid-ajmg3>3.0.co;2-y
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ISSN of the journal0148-7299
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