Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS.
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.
Bernert
J
J
Institut für Humangenetik, Universität Göttingen, Germany.
Bartels
I
I
Gatz
G
G
Hansmann
I
I
Heyat
M
M
Niedmann
P D
PD
Rehder
H
H
Waldenmaier
C
C
Zoll
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005819:Genetic Markers / Q000235:genetics; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome
D005819:Genetic Markers