| Autor: |
O, Gorukmez, H, Aydin, S Ozemri, Sag, A, Kucukcongar, F M, Celayir |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Genetic counseling (Geneva, Switzerland). 26(2) |
| ISSN: |
1015-8146 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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