Translocations in Prader‐WiIIi syndrome

Joel Charrow*, Nancy Balkin, Maimon M. Cohen

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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+ 15q11‐q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the “deletion hypothesis.”

Original languageEnglish (US)
Pages (from-to)304-307
Number of pages4
JournalClinical Genetics
Volume23
Issue number4
DOIs
StatePublished - Jan 1 1983

Keywords

  • Chromosome translocations
  • Prader‐Willi syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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