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

  • Human Genetics • Short Communication
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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.

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Acknowledgments

We are grateful to Professor Ants Kurg and Olga Zilina MSc from the Institute of Molecular and Cell Biology, University of Tartu, Estonia, for the interpretation of the SNP array analysis. This work was partly supported by target financing SF0180096s08 of the Estonian Ministry of Science and Education.

Electronic database information: sSMC derived from chromosome 22. Available online at: http://www.med.uni-jena.de/fish/sSMC/22.htm.

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Authors and Affiliations

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

    Ruth Mikelsaar & Jelena Lissitsina

  2. Institute of Human Genetics, Mainz University School of Medicine, Mainz, Germany

    Oliver Bartsch

Authors
  1. Ruth Mikelsaar
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  2. Jelena Lissitsina
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  3. Oliver Bartsch
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Correspondence to Ruth Mikelsaar.

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Mikelsaar, R., Lissitsina, J. & Bartsch, O. Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism. J Appl Genetics 52, 331–334 (2011). https://doi.org/10.1007/s13353-011-0041-5

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  • DOI: https://doi.org/10.1007/s13353-011-0041-5

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