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

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

The Turkish journal of pediatrics, cilt.35, sa.4, ss.333-336, 1993 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 4
  • Basım Tarihi: 1993
  • Dergi Adı: The Turkish journal of pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.333-336
  • Ankara Üniversitesi Adresli: Evet

Özet

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.