A case of Prader Willi syndrome with del 15 (q11-->q13).

Tunçman G., Tükün A., Yalaz K., Bökesoy I.

The Turkish journal of pediatrics, vol.35, no.4, pp.333-336, 1993 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 4
  • Publication Date: 1993
  • Journal Name: The Turkish journal of pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.333-336
  • Ankara University Affiliated: Yes

Abstract

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.