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Mol. Hum. Reprod. Advance Access published online on October 14, 2008
Molecular Human Reproduction, doi:10.1093/molehr/gan057
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Fertility in a i(Xq) Klinefelter patient: importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermia

M. Stabile1,2,*, T. Angelino2, F. Caiazzo2, P. Olivieri2, N. De Marchi3, L. De Petrocellis4 and P. Orlando5,*

1Medical Genetic Department A.S.L. "Cardarelli"- Napoli, Italy 2Genetic Counseling Center "Zigote" – Salerno, Italy 3ARSan, Agenzia Regionale Sanitaria della Campania, Napoli, Italy 4Inst. of Cybernetic "E.Caianiello", CNR, via C. Flegrei Pozzuoli –Napoli, Italy 5Inst. of Protein Biochemistry, CNR, via P.Castellino 111 Napoli, Italy

* To whom correspondence should be addressed: E-mail: zigote{at}tiscali.it p.orlando{at}ibp.cnr.it

The presence of an isochromosome Xq in Klinefelter Syndrome (KS) is an apparently rare condition. In all cases reported so far patients showed the classic phenotype. We here describe a case of isochromosome Xq [47,X,i(Xq),Y] in a non-mosaic KS patient. The patient exhibited a normal androgenised phenotype, normal testes, and normal cognitive abilities. Semen analysis revealed a medium oligozoospermia (5x106 spermatozoa/ml). After the patient underwent intracytoplasmic sperm injection (ICSI), he generated two cytogenetically healthy normal females. FISH analysis showed the presence of a dicentric Xq chromosome that did not show the presence of residual Xp arm up to the 57,820,478 bp position (Xp 1.1) of X chromosome sequence. Preferential inactivation of Xq isochromosome was demonstrated by bromodeoxyuridine replication analysis and transcriptional silencing by DNA methylation at the HUMARA locus. Furthermore, we demonstrated by quantitative RT-PCR an active XIST RNA expression in blood lymphocytes from Klinefelter patients, comparable to that observed in control females and over 30000-fold greater than in control males. In conclusion, this qRT-PCR approach could be useful for screening of pre-puberty males and for diagnosis or exclusion of cryptic Klinefelter mosaics.

Key Words: Klinefelter syndrome/isochromosome Xq/XIST expression/fertility

Submitted on July 11, 2008; resubmitted on September 27, 2008; accepted on October 1, 2008.


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