Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype |
| |
| Authors: | C Goumy A M Beaufrère C Francannet A Tchirkov H Laurichesse Delmas F Geissler D Lemery P J Dechelotte P Vago |
| |
| Institution: | 1. Cytogénétique Médicale, CHU/Faculté de Médecine Clermont-Ferrand, France;2. Anatomie et cytologie pathologiques, CHU Clermont-Ferrand, France;3. Génétique Médicale, CHU Clermont-Ferrand, France;4. Médecine F?tale, CHU Clermont-Ferrand, France;5. Service d'Imagerie Médicale, CHU Clermont-Ferrand, France |
| |
| Abstract: | We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)14]/46,XX1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically and cytogenetically normal after birth. So we performed CGH and array-CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype. Copyright © 2005 John Wiley & Sons, Ltd. |
| |
| Keywords: | isochromosome 20q abnormal phenotype prenatal diagnosis genetic counselling |
|
|
