[Detection of aneuploidy in spontaneous abortions using the comparative hybridization method].
Comparative genomic hybridization (CGH) technique was used to examine a set of ten spontaneous abortions whose cell cultures were characterized by the lack of proliferation in vitro, and thereby, were not available for the analysis by means of routine cytogenetic methods. Five abortions (50%) had aneuploidy of autosomes, including trisomy 10, 14, 18, and 21, and monosomy 22. The latter variant of unbalanced chromosomal abnormalities is rarely detected in spontaneous abortions by use of conventional cytogenetic methods. The results were validated by using fluorescent in situ hybridization (FISH) analysis with centromere-specific DNA probes. Embryos with trisomy 10 and monosomy 22 displayed mosaicism with the frequencies of abnormal cell clones constituting 68 and 33% respectively. The advantages and limitations of the applying of CGH technique for detection of genomic abnormalities in both nonmosaic and mosaic forms are discussed.
Ostroverkhova
N V
NV
Research Institute of Medical Genetics, Tomsk Scientific Center, Russian Academy of Medical Sciences, Tomsk, 34058 Russia.
Nazarenko
S A
SA
Lebedev
I N
IN
Cheremnykh
A D
AD
Nikitina
T V
TV
Sukhanova
N N
NN
D000022:Abortion, Spontaneous; D000782:Aneuploidy; D001710:Biotin / Q000378:metabolism; D002503:Centromere / Q000235:genetics; D002892:Chromosomes, Human, Pair 22; D015342:DNA Probes / Q000235:genetics / Q000378:metabolism; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D014314:Trisomy
D015342:DNA Probes; D001710:Biotin