Prenatal diagnosis of Pallister-Killian syndrome.
We describe a case of Pallister-Killian syndrome ascertained by routine amniocentesis as i(12p). The i(12p) was also found in 4 tissues of the aborted fetus, where various degrees of mosaicism 46/47 + i(12p) were seen. Although autopsy showed no major malformations, some of the minor anomalies of Pallister-Killian syndrome were found.
Soukup
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Division of Human Genetics, Children's Hospital, Cincinnati, Ohio.
Neidich
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D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D013577:Syndrome; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins