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

Eliez, Stéphan; Morris, Michael Andréw; Dahoun-Hadorn, S.; DeLozier-Blanchet, C. D.; Gos, A.; Sizonenko, P.; Antonarakis, Stylianos

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

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Title		Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13
Authors		Eliez, Stéphan Morris, Michael Andréw Dahoun-Hadorn, S. DeLozier-Blanchet, C. D. Gos, A. Sizonenko, P. Antonarakis, Stylianos
Published in		American Journal of Medical Genetics. 1997, vol. 70, no. 3, p. 222-228
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
Identifiers		DOI: 10.1002/(sici)1096-8628(19970613)70:3<222::aid-ajmg3>3.0.co;2-y PMID: 9188657
Full text		Article - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine clinique / Département de médecine
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 https://archive-ouverte.unige.ch/unige:8735

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