Objective and Method: By the cytogenetic examination on 189 natural abortion, amenia and dysgenitalis patients, we found the abnormal chromosome karyotype in 16 patients which involve in 1,2,3,4,5,6,7,8,9,10,15,X,Y chromosome, including 10 balanced translocations, 3 abnormal sex chromosomes and 3 huge Y chromosomes.
Chromosome analyses of 100 couples with two or more spontaneous abortions were made with culturing lymphocyles and G-bandig stain 6 cases revealed chromose abortion (3%), of them 5 were balanced translocation (2.5%) and 1 was 8 q~- (0.5%).
Rusults:There were 16 abnormal karyotypes in 204 couples with spontaneous abortions(15 cases were balanced translocations,1 case was robertsonian translocation),the rate of abnormal karyotypes was 3.82%,much higher than that of common population(P<0.01).
Objective To explore the association of nitric oxide synthase 3(NOS3) gene variable number of tandem repeat(VNTR) polymorphism in intron 4 and an 894(G/T) mutation at exon 7 with recurrent early spontaneous abortion (RESA). Methods One hundred and forty RESA women (patient group) and 140 healthy women with at least 1 pregnancy and without a history of pregnancy complications (control group) were included.
目的探讨一氧化氮合酶3(nitric oxide synthase 3,NOS3)基因第4内含子27bp数目可变串联重复序列(variable number of tandem repeat,VNTR)多态性和第7外显子894(G/T)多态性与复发性早期自然流产(recurrent early spontaneous abortion,RESA)的相关性。
An analysis of DNA from the embryos and their parents has demonstrated a low probability of contamination of cell cultures with mother cells as a possible source of the prevalence of embryos with the 46.XX karyotype among spontaneous abortions.
However, the model cannot be used to study tissue chromosomal mosaicism in spontaneous abortions, because little information is available on cell karyotype in embryonic tissues themselves after intrauterine fetal death.
Detection of Aneuploidy in Spontaneous Abortions Using Comparative Genomic Hybridization
The latter variant of unbalanced chromosomal abnormalities is rarely detected in spontaneous abortions by use of conventional cytogenetic methods.
The results of standard cytogenetic analysis of the long-term cultures of embryonic fibroblasts of 478 first-trimester spontaneous abortions were retrospectively reviewed.