title: [Clinico-genetic aspects of the ovarian failure syndrome].
abstract: Clinical-genetic examination of 50 patients with menopause praecox syndrome has been performed. The results of the examination show genetic syndrome heterogeneity. Chromosomal and gene mutations take part in the syndrome pathogenesis. Chromosomal abnormalities frequency is 12%. Chromosomal aberrations are presented by different mosaicism types of sex chromosomes. Monogenic syndrome genesis with different inheritance types of the pathologic gene is determined: autosomal-recessive or autosomal-dominant.
authors.forename: E A
authors.initials: EA
authors.lastname: Kirillova
authors.forename: V P
authors.initials: VP
authors.lastname: Smetnik
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000453:epidemiology / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D009030:Mosaicism / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
vernacular_title: Kliniko-geneticheskie aspekty sindroma istoshcheniia iachnikov.