Prader‐Willi syndrome associated with inversion of chromosome 15
- 1 December 1983
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 24 (6) , 456-461
- https://doi.org/10.1111/j.1399-0004.1983.tb00104.x
Abstract
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.Keywords
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