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Prader‐Willi syndrome associated with inversion of chromosome 15
Author(s) -
Winsor Elizabeth J. T.,
Welch J. Philip
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.tb00104.x
Subject(s) - proband , chromosomal inversion , genetics , inversion (geology) , chromosome , biology , chromosome 9 , x chromosome , etiology , karyotype , endocrinology , medicine , gene , mutation , paleontology , structural basin
A boy with Prader‐Willi syndrome was found to have an inversion of chromosome 15,[46, XY, inv(15)(p13q13)]. His unaffected father has an apparently identical inversion of chromosome 15 but in addition has a number 14 chromosome with double satellites. This report supports previous indications of a relationship between a “position effect” and the etiology of Prader‐Willi syndrome. However, a more complicated explanation is required in view of the cytogenetic findings in the proband's father.