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, sa.3, ss.393-397, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.393-397
  • Anahtar Kelimeler: Chromosome 20, Isolated duplication, Array CGH, SUSCEPTIBILITY LOCUS, CHROMOSOME 20Q11.2, GRAVES-DISEASE, TRISOMY
  • Karadeniz Teknik Üniversitesi Adresli: Evet

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.