Klinefelter variant mosaic with a reciprocal translocation t(1;7)

Vasu, Vidya Rendheer; Chandra, Nallathambi; Jayashankar, M. R.; Santhiya, S.

doi:10.1016/j.fertnstert.2007.12.017

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“…48,XXXY,t(1;7)(q42;q32)pat[71%]/47,XXY,t(1;7)(q42; q32)pat[29%] was detected in a case clinically suspected to be klinefelter [18]. Two cases of klinefelter syndrome plus a robertsonian translocation between chromosome 13q;14q and 13q;15q [46,XXY,t(13q;14q) and 46,XXY,t(13q;15q)] were reported [19,20].…”

Section: Discussionmentioning

confidence: 99%

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

Mahjoubi

Razazian

2012

J Assist Reprod Genet

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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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Section: Discussionmentioning

confidence: 99%