45,X/46,XY qh- karyotype and aspermia. A case report.
G R Mendeluk, E M Pardes, S López-Costa
Laboratory of Male Fertility, Department of Clinical Biochemistry, Faculty of Pharmacy and Biochemistry, INFIBIOC, University of Buenos Aires, Argentina. gabrielamendeluk@fibertel.com.ar
T͡Sitologii͡a i genetika 2012 Jul-AugA 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.
Citation
G R Mendeluk, E M Pardes, S López-Costa. 45,X/46,XY qh- karyotype and aspermia. A case report. T͡Sitologii͡a i genetika. 2012 Jul-Aug;46(4):27-30
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PMID: 23074959
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