Pallister-Killian syndrome diagnosed by chorionic villus sampling.
The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.
Sharland
M
M
Department of Genetics, St George's Hospital Medical School, Tooting, London, U.K.
Hill
L
L
Patel
R
R
Patton
M
M
D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D016216:Ultrasonography, Prenatal