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Review
. 2012 May;29(5):437-41.
doi: 10.1007/s10815-012-9725-y. Epub 2012 Mar 1.

Constitutional complex chromosomal rearrangements in a klinefelter patient: case report and review of literature

F Mahjoubi  1 , F Razazian
Affiliations
Review

Constitutional complex chromosomal rearrangements in a klinefelter patient: case report and review of literature

F Mahjoubi et al. J Assist Reprod Genet. 2012 May.

Abstract

Backgrounds: While XXY aneuploidy is the most common disorder of sex chromosomes in men, complex chromosomal rearrangements (CCRs) are rare in humans.

Case description: Here we describe clinical and cytogenetic findings in a male referred to our cytogenetic laboratory by an infertility clinic. The patient's age was 35 at the time of referral. Total azoospermia was confirmed on semen analysis.

Results: The karyotype of peripheral blood showed 47,XXY,t(1;3;5)(p22;q29;q22). The mother had the same CCRs.

Discussion: To our best of our knowledge this is the first case of 47,XXY with CCRs. We think it is important to report such a unique chromosomal occurrence.

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Figures

Fig. 1
Fig. 1
The karyotype [47,XXY,t(1;3;5)(p22;q29;q22)] of the proband
Fig. 2
Fig. 2
The karyotype [(46,XX,t(1;3;5)(p22;q29;q22)] of the mother
Fig. 3
Fig. 3
Partial karyotype of the CCRs and ideograms of chromosomes1, 3, and 5. The arrows point to the breakpoint at each chromosome
See this image and copyright information in PMC

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