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Prenat Diagn. 2006 Mar;26(3):239-41.

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling.

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  • 1Department of Cytogenetics, CHI Poissy-St Germain-en-Laye, Poissy, France.


We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency.

2006 John Wiley & Sons, Ltd.

[PubMed - indexed for MEDLINE]
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