A NEW ISOLATED 20q INTERSTITIAL DUPLICATION CASE AND ITS CLINICAL COMPARISON WITH SIMILAR ISOLATED CASES


Cebi A. H. , Karaguzel G., Karakus M., Polat R., Seyhan S., Onder H., ...Daha Fazla

GENETIC COUNSELING, cilt.27, ss.393-397, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 27 Konu: 3
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.393-397

Özet

A new isolated 20q interstitial duplication case and its clinical comparison with similar isolated cases: Duplications of 20q are rare. Here we report a 15 years old boy with de novo duplication of 17.1Mb at chromosome 20q. We made a comparison with the other isolated 20q duplication cases. There are phenotypic similarities between the patients who have the same affected chromosomal regions. We also showed a clinical follow up of the patient. There may be a relationship with Glaucoma and Graves disease between the chromosomal region and these diseases may occur at the other patients when they get older.