A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-9

Authors
WILKINSON TA JAMES RS CROLLA JA COCKWELL AE CAMPBELL PL TEMPLE IK
Citation
Ta. Wilkinson et al., A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-9, Prenatal diagnosis, 16(4), 1996, pp. 371-374
Citations number
14
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
16
Issue
4
Year of publication
1996
Pages
371 - 374
Database
ISI
SICI code
0197-3851(1996)16:4<371:ACOMUD>2.0.ZU;2-Y
Abstract
We describe the first case of maternal uniparental disomy (UPD) of chr omosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chori onic villus sample. Karyotyping and molecular studies following termin ation of the pregnancy confirmed mosaicism in the placenta and materna l UPD(9) in the fetal tissues. This case demonstrates that the mechani sm of trisomy correction may result in a fetus with UPD(9).