PRENATAL-DIAGNOSIS OF ROBERTS-SYNDROME - 2 NEW CASES

Citation
B. Benzacken et al., PRENATAL-DIAGNOSIS OF ROBERTS-SYNDROME - 2 NEW CASES, Prenatal diagnosis, 16(2), 1996, pp. 125-130
Citations number
24
Categorie Soggetti
Obsetric & Gynecology
Journal title
ISSN journal
01973851
Volume
16
Issue
2
Year of publication
1996
Pages
125 - 130
Database
ISI
SICI code
0197-3851(1996)16:2<125:POR-2N>2.0.ZU;2-P
Abstract
We report two fetuses with typical anomalies of Roberts syndrome. Pren atal diagnosis was confirmed by the characteristic disjunction of cent romeres in amniocytes. We compare these cases with a child who present ed with severe Roberts syndrome. We attempted to evaluate quantitative ly the centromeric abnormality and the chromosome separation in the di fferent cultures and with different methods. The variability of the cl inical manifestations and cytogenetic investigations of this syndrome are reviewed.