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 language | English (US) |
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Pages (from-to) | 304-307 |
Number of pages | 4 |
Journal | Clinical genetics |
Volume | 23 |
Issue number | 4 |
DOIs | |
State | Published - Apr 1983 |
Keywords
- Chromosome translocations
- Prader‐Willi syndrome
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics