PRENATAL-DIAGNOSIS FOR SCHMID METAPHYSEAL CHONDRODYSPLASIA IN TWINS

Authors
MILUNSKY J MAHER T LEBO R MILUNSKY A
Citation
J. Milunsky et al., PRENATAL-DIAGNOSIS FOR SCHMID METAPHYSEAL CHONDRODYSPLASIA IN TWINS, Fetal diagnosis and therapy, 13(3), 1998, pp. 167-168
Citations number
6
Categorie Soggetti
Obsetric & Gynecology
Journal title
Fetal diagnosis and therapy → ACNP
ISSN journal
10153837
Volume
13
Issue
3
Year of publication
1998
Pages
167 - 168
Database
ISI
SICI code
1015-3837(1998)13:3<167:PFSMCI>2.0.ZU;2-M
Abstract
We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutatio n in an affected father allowed prenatal. diagnosis by chorionic villu s sampling in a twin pregnancy. Neither of the nonidentical twins rece ived the abnormal COL10A1 gene from their affected father. This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be of fered to all families with characterized COL10A1 gene mutations.