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., ...More

GENETIC COUNSELING, vol.27, no.3, pp.393-397, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 3
  • Publication Date: 2016
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.393-397
  • Keywords: Chromosome 20, Isolated duplication, Array CGH, SUSCEPTIBILITY LOCUS, CHROMOSOME 20Q11.2, GRAVES-DISEASE, TRISOMY

Abstract

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.