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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
Dahoun-Hadorn, S.
DeLozier-Blanchet, C. D.
Gos, A.
Sizonenko, P.
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 AdolescentBlotting, SouthernChromosome DeletionChromosomes, Human, Pair 15DNA, SatelliteFemaleHumansIn Situ Hybridization, FluorescenceKaryotypingPedigreePrader-Willi Syndrome/ geneticsTranslocation, GeneticY Chromosome
Identifiers
PMID: 9188657
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Other version: http://www3.interscience.wiley.com/journal/47718/abstract
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ELIEZ, Stephan 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. https://archive-ouverte.unige.ch/unige:8735

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Deposited on : 2010-07-12

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