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Published January 1, 2015 | Version v1
Journal article Open

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

Creators

  • 1. Sevket Yilmaz Training & Res Hosp, Med Genet Unit, Bursa, Turkey
  • 2. Zeynep Kamil Training & Res Hosp, Med Genet Unit, Istanbul, Turkey
  • 3. Uludag Univ, Sch Med, Dept Med Genet, Bursa, Turkey
  • 4. Sevket Yilmaz Training & Res Hosp, Bursa, Turkey

Description

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.

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