Heterochromatin variants of chromosome 9: clinical aspects and method of molecular cytogenetic examination
Abstract
We provide an overview of diagnoses in the large group of 405 chromosome 9 variant carriers that were karyotyped between 1986 and 2012. Idiopathic sterility was the most common clinical indication with frequency 43.5%.
In the control group of 700 individuals with normal karyotype (without any kind of variant), the referral incidence of idiopathic infertility was significantly lower - only 30.0% (p<0.0001). We also present a special molecular cytogenetic procedure which we use for more precise analysis of heterochromatin area of chromosome 9.
Three different FISH probes - centromeric alpha-satellite, centromeric III-DNA satellite and a specific BAC probe (hybridizing on 9p12 and 9q13 homologous sequences) - are involved.