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

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 feta...

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Veröffentlicht in:	Prenatal diagnosis 1996-04, Vol.16 (4), p.371-374
Hauptverfasser:	WILKINSON, TRACY A., JAMES, ROWENA S., CROLLA, JOHN A., COCKWELL, ANNETTE E., CAMPBELL, PAUL L., TEMPLE, I. KAREN
Format:	Artikel
Sprache:	eng
Schlagworte:	Abortion, Induced Adult Biological and medical sciences Chorionic Villi Sampling Chromosomes, Human, Pair 9 - genetics confined placental mosaicism Cytogenetics Female Genomic Imprinting Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Karyotyping Management. Prenatal diagnosis Medical sciences Molecular Biology Mosaicism Placenta Polymerase Chain Reaction Pregnancy Pregnancy. Fetus. Placenta Trisomy - genetics trisomy 9 trisomy rescue uniparental disomy
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Zusammenfassung:	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).
ISSN:	0197-3851 1097-0223
DOI:	10.1002/(SICI)1097-0223(199604)16:4<371::AID-PD866>3.0.CO;2-S