Vorsanova S G, Iurov I Iu, Kolotiĭ A D, Beresheva A K, Demidova I A, Kurinnaia O S, Kravets V S, Monakhov V V, Solov'ev I V, Iurov Iu B
Genetika. 2010 Oct;46(10):1356-9.
It is known that up to 50% spontaneous abortions (SA) in the first trimester of pregnancy are associated with chromosomal abnormalities. We studied mosaic forms of chromosomal abnormalities in 650 SA specimens using interphase mFISH and DNAprobes for chromosomes 1,9, 13/21, 14/22, 15, 16, 18, X, and Y. Numerical chromosomal abnormalities were discovered in 58.2% (378 cases). They contained combined chromosomal abnormalities (aneuploidy of several chromosomes or aneuploidy in combination with polyploidy in the same specimen) in 7.7% (29 cases) or 4.5% of the entire SA sample; autosomal trisomy, in 45% (18.2% in chromosome 16, 8.9% in chromosomes 14/22, 7.9% in chromosomes 13/21, 3.1% in chromosome 18, and 1.4% in chromosome 9). Chromosome X aneuploidy was found in 27% cases, among which 9.6% represented chromosome X monosomy. Polyploidy was observed in 22.9% cases. In 5.1% cases, we observed mosaic form of autosomal monosomy Among the SA cases with chromosomal abnormalities mosaicism was observed in 50.3% (approximately 25% of the entire SA sample). The results of the present study indicate that significant amount of chromosomal abnormalities in SA cells are associated with disturbances in mitotic chromosome separation, which represents the most common cause of intrauterine fetal death. It was also shown that original collection of DNA probes and the technique of interphase MFISH could be useful for detection of chromosomal mosaicism in prenatal cell specimens.
已知妊娠早期高达50%的自然流产（SA）与染色体异常有关。我们使用间期多色荧光原位杂交（mFISH）和针对1、9、13/21、14/22、15、16、18、X和Y染色体的DNA探针，研究了650例自然流产标本中的染色体异常嵌合形式。在58.2%（378例）中发现了染色体数目异常。其中7.7%（29例）或占整个自然流产样本的4.5%包含复合染色体异常（同一标本中几条染色体的非整倍体或非整倍体与多倍体组合）；常染色体三体，占45%（16号染色体为18.2%，14/22号染色体为8.9%，13/21号染色体为7.9%，18号染色体为3.1%，9号染色体为1.4%）。在27%的病例中发现了X染色体非整倍体，其中9.6%为X染色体单体。在22.9%的病例中观察到多倍体。在5.1%的病例中，我们观察到常染色体单体的嵌合形式。在有染色体异常的自然流产病例中，50.3%（约占整个自然流产样本的25%）观察到嵌合现象。本研究结果表明，自然流产细胞中大量的染色体异常与有丝分裂染色体分离紊乱有关，这是宫内胎儿死亡的最常见原因。还表明，最初收集的DNA探针和间期多色荧光原位杂交技术可用于产前细胞标本中染色体嵌合现象的检测。
