Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS
- 1 March 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 42 (5), 747-750
- https://doi.org/10.1002/ajmg.1320420525
Abstract
Prenatal cytogenetic analysis at 11 weeks of gestation revealed an abnormal karyotype 47,XX,+mar in all metaphases obtained from a chorionic villi sample after 24 h culture. Karyotyping of amniotic fluid cells in the second trimester showed mosaicism 47,XX,+i(12p)/46,XX with 10% aneuploid cells. The pregnancy was terminated at 20 weeks of gestation on the patient's request. The aborted fetus showed typical manifestations of the Pallister-Killian mosaic aneuploidy syndrome. The identity of the supernumerary isochromosome 12p was proven by LDH isozyme electrophoresis using cultured fibroblasts and by nonradioactive in situ hybridization using a biotinylated set of chromosome 12-specific DNA probes.Keywords
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