Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling.
| Autor: | Chantot-Bastaraud S; Service d'Histologie, Biologie de la Reproduction et Cytogénétique, Hôpital Tenon et Laboratoire de Cytologie Histologie, Centre Universitaire des Saints-Pères, Paris, France., Siffroi JP, Berkane N, Heim N, Herve F, Uzan S, Vendrely E |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Fetal diagnosis and therapy [Fetal Diagn Ther] 2003 Mar-Apr; Vol. 18 (2), pp. 111-3. |
| DOI: | 10.1159/000068071 |
| Abstrakt: | Chromosomal centromeric variants can be found in the course of a prenatal diagnosis. When following the discovery of fetal abnormalities at ultrasound examination, such variants may lead to some difficulties in genetic counseling. Here we describe a new heteromorphism implicating chromosome 12, found in a fetus with a suspicion of microcephaly, and we discuss its prognostic value. (Copyright 2003 S. Karger AG, Basel) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|