Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism

Ruth Mikelsaar; Jelena Lissitsina; Oliver Bartsch

doi:10.1007/s13353-011-0041-5

Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism

J Appl Genet. 2011 Aug;52(3):331-4. doi: 10.1007/s13353-011-0041-5. Epub 2011 Apr 5.

Authors

Ruth Mikelsaar¹, Jelena Lissitsina, Oliver Bartsch

Affiliation

¹ Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia. ruth.mikelsaar@ut.ee

PMID: 21465155
DOI: 10.1007/s13353-011-0041-5

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Chromosome Banding
Chromosome Disorders / genetics*
Chromosome Inversion
Chromosomes, Human, Pair 22 / genetics*
Genetic Markers
Humans
Hypogonadism / genetics*
In Situ Hybridization, Fluorescence
Infertility, Male / genetics*
Karyotyping
Male
Sequence Analysis, DNA
Trisomy*

Substances

Genetic Markers