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

• Autorzy: Mikelsaar R. , Lissitsina J. , Bartsch O.
• Języki publikacji: EN

Abstrakty

EN

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.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2011
• Tom: 52
• Numer: 3
• Opis fizyczny: p.331-334,fig.,ref.

Twórcy

autor

Mikelsaar R.

• Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia

autor

Lissitsina J.

autor

Bartsch O.

Uwagi

PL

Rekord w opracowaniu