[Interpretation of the karyotype characteristics of patients with developmental defects of the urogenital system].
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.
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011110:Polymorphism, Genetic; D012728:Sex Chromatin / Q000648:ultrastructure; D014564:Urogenital Abnormalities; D014960:X Chromosome / Q000648:ultrastructure
K voprosu o traktovke osobennosteĭ kariotipa bol'nykh s porokami razvitiia mochepolovykh organov.