MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM


Gorukmez O., Aydin H., Gorukmez O., Sag S. O. , Kucukcongar A., Celayir F. M.

GENETIC COUNSELING, vol.26, no.2, pp.181-186, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 2
  • Publication Date: 2015
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.181-186
  • Bursa Uludag University Affiliated: Yes

Abstract

Microarray delineation of de novo duplication 1q32q42 in a child showing multiple anomalies and dysmorphism: We present a 9 month-old baby girl with de novo pure interstitial duplication 1q. The girl has dysmorphic craniofacial features as well as neuromotor retardation, multiple subcutaneous solid tissue lesions, urogenital anomalies, cardiac defect, liver parenchyma heterogeneity and intracranial anomaly. The case of de novo duplication of 1q32q42 defined by G-banding and Microarray Comparative Genomic Hybridization (Microarray CGH) was presented with its clinical findings.