GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS OF OSTEOGENESIS IMPERFECTA CAUSED BY PATERNAL MOSAICISM

Authors
LUND AM SCHWARTZ M SKOVBY F
Citation
Am. Lund et al., GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS OF OSTEOGENESIS IMPERFECTA CAUSED BY PATERNAL MOSAICISM, Prenatal diagnosis, 16(11), 1996, pp. 1032-1038
Citations number
33
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
16
Issue
11
Year of publication
1996
Pages
1032 - 1038
Database
ISI
SICI code
0197-3851(1996)16:11<1032:GAPOOI>2.0.ZU;2-R
Abstract
In a family with recurrent osteogenesis imperfecta (OI) caused by pate rnal mosaicism, prenatal diagnosis was made using restriction enzyme a nalysis for a mutation in COL1A2. Parental mosaicism is important to c onsider in genetic counselling for OI. Prenatal diagnosis of OI is ava ilable currently by means of collagen or gene analyses in the first tr imester or by ultrasonography in the second trimester.