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A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9
Author(s) -
WILKINSON TRACY A.,
JAMES ROWENA S.,
CROLLA JOHN A.,
COCKWELL ANNETTE E.,
CAMPBELL PAUL L.,
TEMPLE I. KAREN
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199604)16:4<371::aid-pd866>3.0.co;2-s
Subject(s) - uniparental disomy , trisomy , aneuploidy , fetus , chorionic villus sampling , karyotype , placenta , biology , chromosome , pregnancy , genetics , obstetrics , prenatal diagnosis , medicine , gene
We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaicism in the placenta and maternal UPD(9) in the fetal tissues. This case demonstrates that the mechanism of trisomy correction may result in a fetus with UPD(9).