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, cilt.26, sa.2, ss.181-186, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 2
  • Basım Tarihi: 2015
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.181-186
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.