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Objective
To compare mosaicisms in prenatal chorionic villus samples (CVSs) with corresponding postpartum placental samples.
Method
We collected placentas from 15 consecutive cases of mosaicism detected in CVSs and obtained five standardized samples on each placenta after delivery. All pre‐ and postnatal placental samples were uncultured and analyzed by high‐resolution chromosomal microarray.
...
Cytogenetic analysis of chorionic villous sampling revealed a mosaic karyotype with gain of a rearranged X chromosome. Microarray and additional studies indicated that the rearranged X carried an inverted duplication, a deletion and a satellited Xqter. Gain of this rearranged X was confirmed by follow-up amniocentesis and postnatal cord blood sample. A full-term infant girl was delivered and showed...
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