World J Mens Health.  2017 Dec;35(3):205-208. 10.5534/wjmh.17015.

Male Infertility Associated with a Supernumerary Marker Chromosome

• Song SH
• Park SH
• Shin E
• Jung JH
• Shim SH
• Kim DS

• KMID: 2398570
• DOI: http://doi.org/10.5534/wjmh.17015

Abstract

A marker chromosome (mar) is a structurally abnormal chromosome in which no part can be identified. The significance of a marker varies, depending on the material contained within the marker. Very few reports have been published of marker chromosomes associated with male infertility. Here, we report the case of an infertile man with a rare variant of a marker chromosome of a mos 47,XY,+mar[25]/46,XY[25] karyotype.

Keyword

Azoospermia; Chromosome aberrations; Infertility, male

MeSH Terms

Azoospermia
Chromosome Aberrations
Humans
Infertility, Male*
Karyotype
Male
Male*

Figure

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  Fig. 1 Karyotyping (GTG banding, ×1,000) revealed a mos 47,XY,+mar[25]/46,XY[25] with a supernumerary marker chromosome of unknown origin.

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  Fig. 2 Fluorescence in situ hybridization analysis with a CEP 1 (D1Z1) probe showed that the marker chromosome originated from the centromeric region of chromosome 1.

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  Fig. 3 The histology of a testes biopsy revealed different-sized seminiferous tubules with thick basement membranes containing Sertoli cells with minimal germ cells (arrows) (H&E ×100).

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