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

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.

journal_name

J Assist Reprod Genet

authors

Mahjoubi F,Razazian F

doi

10.1007/s10815-012-9725-y

subject

Has Abstract

pub_date

2012-05-01 00:00:00

pages

437-41

issue

5

eissn

1058-0468

issn

1573-7330

journal_volume

29

pub_type

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