| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2814546 | European Journal of Medical Genetics | 2008 | 8 Pages |
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.
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Authors
Bertrand Isidor, Norbert Winer, Madeleine Joubert, Pierre Boisseau, Cedric Le Caignec, Michelle Bocéno, Catherine Fallet, Albert David, Jean Marie Rival,