Kirillova E A, Rozovskiĭ I S
Tsitol Genet. 1980 Jan-Feb;14(1):55-9.
35 patients with unclassified urogenital malformations were subjected to clinical and cytogenetic examination. Chromosome aberrations of the mosaicism type were found in 3 women. They were as follows: 45,X/46,XX(2); 45, X/46, XX/47, XXX(1). Moreover, two patients had identical pericentric inversions of chromosome 9: 46, XX, inv. (9) (p13; q13) and 3 patients had microvariants of acrocentric chromosomes. Despite the presence of chromosome anomalies and morphological variants of chromosomes in the examined patients, the comparison of the clinical and cytogenetic data suggests the multifactorial nature of urogenital malformation.
对35例未分类的泌尿生殖系统畸形患者进行了临床和细胞遗传学检查。在3名女性中发现了嵌合型染色体畸变。具体如下：45,X/46,XX(2例)；45,X/46,XX/47,XXX(1例)。此外，两名患者具有相同的9号染色体臂间倒位：46,XX,inv.(9)(p13;q13)，3名患者具有近端着丝粒染色体的微小变异。尽管在所检查的患者中存在染色体异常和染色体形态变异，但临床和细胞遗传学数据的比较表明泌尿生殖系统畸形具有多因素性质。
