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Translocations in Prader‐WiIIi syndrome
Author(s) -
Charrow Joel,
Balkin Nancy,
Cohen Maimon M.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb01881.x
Subject(s) - chromosomal translocation , genetics , breakpoint , biology , gene
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.”