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Translocations in Prader-Willi syndrome.

J Charrow·N Balkin·M M Cohen
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Abstract

The Prader-Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11-q12. The first case of this syndrome associated with a de novo translocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12[45, XX,t(11;15)(q25;q11-12)], resulting in the deletion of 15pter leads to 15q11-q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the "deletion hypothesis."

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ChildChromosome DeletionChromosomes, Human, 13-15Chromosomes, Human, 6-12 and XFemaleHumansPrader-Willi SyndromeTranslocation, GeneticCase ReportsJournal Article

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BibTeXRIS

J Charrow, N Balkin, M M Cohen. 1983. Translocations in Prader-Willi syndrome.. https://doi.org/10.1111/j.1399-0004.1983.tb01881.x

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