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Case Reports
. 2012 Sep;29(9):939-42.
doi: 10.1007/s10815-012-9822-y. Epub 2012 Jun 24.

Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions

Kyle J Lehmann  1 , Jason R Kovac, Jie Xu, Marc Anthony Fischer
Affiliations
Case Reports

Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions

Kyle J Lehmann et al. J Assist Reprod Genet. 2012 Sep.

Abstract

The isodicentric Y (idic Y) chromosome is one of the most common aberrations of the human Y chromosome. Due to a structural instability during cell division, patients with idic Y may develop mosaic karyotypes with variable phenotypes. We present a rare case of a 25-year-old male with azoospermia and infertility. In this patient, an idic Yq was characterized by duplication of almost the entire Y chromosome in head-to-head fashion with breakpoints occurring at the distal Yp / Yp11.3 with sparing of both the AZF and SRY regions. We discuss the possible mechanisms of azoospermia in this patient and add to the limited evidence that exists regarding the importance of pseudoautosomal regions and meiotic sex chromosome pairing as part of normal spermatogenesis.

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Figures

Fig. 1
Fig. 1
The idic(Y)(p11.3) chromosome. a G-banding identifies the idic Yq and duplication of the entire long arm and near complete short arm of the Y chromosome in a head-to-head fashion. b C-banding demonstrates a large C-positive heterochromatic region in both ends and two small C-positive centromeres in the middle region. c FISH identifies two central centromere probes (DYZ3; red). d FISH demonstrates two SRY probes (red)
Fig. 2
Fig. 2
Hematoxylin and eosin stained testicular biopsy specimens demonstrating maturation arrest in a patient with isodicentric Yq mosaicism
See this image and copyright information in PMC

References

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