Abstract
Prader Willi syndrome is a sporadically seen genetic disease with an incidence of 1:25.000. In 56% of cases there is an interstitial deletion (q11 → q13) on chromosome 15.
Cytogenetic analysis was performed on a four-year-old girl with obesity, mental retardation, recurrent febrile convulsions and a provisional diagnosis of Prader Willi syndrome. High-resolution banding was done to observe the subchromosomal deletion. An interstitial deletion (q11 → q13) on one of the 15th chromosomes was observed in all metaphases.
Keywords: PWS, clinical manifestations, cytogenetic findings, chromosome 15
Copyright and license
Copyright © 1993 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
