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

✍ Scribed by TRACY A. WILKINSON; ROWENA S. JAMES; JOHN A. CROLLA; ANNETTE E. COCKWELL; PAUL L. CAMPBELL; I. KAREN TEMPLE

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
395 KB
Volume
16
Category
Article
ISSN
0197-3851

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✦ Synopsis

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).

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