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45,X/46,XY qh - karyotype and aspermia. Case report

Mendeluk G.R., Pardes E.M., López-Costa S.

A 41-years old male with short stature, abnormal male sex differentiation, aspermia and schizoid character disorder is described. The patient was studied from clinical, endocrinological and genetic perspectives. Cytogenetical analysis revealed a chromosomic mosaicism formed by two normal lines 45X and 46,XY qh–. Molecular studies on AZF region evidenced that it was conserved. The correlation of the symptoms with the cytogenetic finding is discussed.

Tsitologiya i Genetika 2012, vol. 46, no. 4, pp. 27-30

• Laboratory of Male Fertility, Department of Clinical Biochemistry, Faculty of Pharmacy and Biochemistry, INFIBIOC, University of Buenos Aires, Argentina
• Servicio de Endocrinología. Hospital J.M. Ramos Mejía, Gobierno de la Ciudad de Buenos Aires, Argentina
• Servicio de Urología. Hospital J.M. Ramos Meía, Gobierno de la Ciudad de Buenos Aires, Argentina

E-mail: gabrielamendeluk fibertel.com.ar

Mendeluk G.R., Pardes E.M., López-Costa S. 45,X/46,XY qh - karyotype and aspermia. Case report, Tsitol Genet., 2012, vol. 46, no. 4, pp. 27-30.

In "Cytology and Genetics":
G. R. Mendeluk, E. M. Pardes, S. López-Costa 45,X/46,XY qh− Karyotype and Aspermia. A case report, Cytol Genet., 2012, vol. 46, no. 4, pp. 217-219
DOI: 10.3103/S0095452712040111