Trisomie 21 par isochromosome : à propos d’un cas rare de discordance fœto-placentaire complète
| Autor: | A. Fichez, C. Huissoud, J. Caloone, René-Charles Rudigoz, C. Abel, D Sanlaville |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Gynecology
medicine.medical_specialty Down syndrome medicine.diagnostic_test Isochromosome Obstetrics and Gynecology Chorionic villus sampling Karyotype General Medicine Anatomy Biology medicine.disease First trimester medicine.anatomical_structure Reproductive Medicine Nuchal translucency embryonic structures medicine Chorionic villi Trisomy reproductive and urinary physiology |
| Zdroj: | Gynécologie Obstétrique & Fertilité. 39:e77-e80 |
| ISSN: | 1297-9589 |
| DOI: | 10.1016/j.gyobfe.2011.07.054 |
| Popis: | We report a rare case of true false negative of chorionic villi sampling for a child with Down syndrome. A chorionic villi sampling was performed for a nuchal translucency at the first trimester. The karyotype was 46,XX for the short and the long-term culture. Because of facial dysmorphy and cardiopathy to the child, a karytoype was proposed. This postnatal karyotype showed a trisomy 21, by isochromosome 46,XX,i(21)(q10). We expose the mechanism of true false negative of chorionic villi sampling, and particularly the role of isochromosome in this case. |
| Databáze: | OpenAIRE |
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