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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348273 | PMC |
| http://dx.doi.org/10.1007/s10815-012-9725-y | DOI Listing |
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