title: Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism.
abstract: We describe the first case of a supernumerary inv dup(22)(q11.1) in an infertile male with hypogonadotropic hypogonadism. This case supports the opinion that supernumerary inv dup(22)(q11.1) could play a role in male infertility. We suggest that the breakpoint in the region 22q11.1 and/or fourfold dosage of centromeric/pericentromeric sequences of the chromosome 22 may be the cause of hypogonadotropic hypogonadism resulting in impaired spermatogenesis and infertility in our patient.
authors.affiliation: Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia. ruth.mikelsaar@ut.ee
authors.forename: Ruth
authors.initials: R
authors.lastname: Mikelsaar
authors.forename: Jelena
authors.initials: J
authors.lastname: Lissitsina
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D017422:Sequence Analysis, DNA; D014314:Trisomy
chemical_list: D005819:Genetic Markers