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Eur J Med Genet. 2008 May-Jun;51(3):231-8. doi: 10.1016/j.ejmg.2007.12.010. Epub 2008 Jan 12.

Inherited 18q23 duplication in a fetus with multiple congenital anomalies.

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  • 1Medical Genetic Department, Nantes University Hospital, Nantes, France. bertrand.isidor@chu-nantes.fr <bertrand.isidor@chu-nantes.fr>

Abstract

We report on a fetus with multiple congenital anomalies including atypical lissencephaly, corpus callosum agenesis, cerebellar hypoplasia, cleft palate, ventricular septal defect, and hypoplastic aortic arch. The initial routine chromosome study failed to detect any abnormality. Subtelomeres analysis by MLPA identified an 18q23 duplication inherited from its healthy father. We describe the anomalies identified and discuss diagnosis and the causability of this telomeric duplication.

PMID:
18282818
[PubMed - indexed for MEDLINE]
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