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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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| Authors: | D Molina-Gomes V Nebout F Daikha-Dahmane F Vialard Y Ville J Selva |
| Institution: | 1. Department of Cytogenetics, CHI Poissy-St Germain-en-Laye, Poissy, France;2. Department of Anatomopathology, CHI Poissy-St Germain-en-Laye, Poissy, France;3. Department of Cytogenetics, CHI Poissy-St Germain-en-Laye, Poissy, France
Unité INSERM U407, Faculté de Médecine Lyon Sud, 69921 Oullins Cedex, France;4. Department of Obstetrics and Gynecology, CHI Poissy-St Germain-en-Laye, Poissy, France |
| Abstract: | 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. Copyright © 2006 John Wiley & Sons, Ltd. |
| Keywords: | trisomy 20p syndrome pericentric inversion prenatal diagnosis nuchal translucency CVS |