45,X/46,XY qh- karyotype and aspermia. A case report.
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.
Laboratory of Male Fertility, Department of Clinical Biochemistry, Faculty of Pharmacy and Biochemistry, INFIBIOC, University of Buenos Aires, Argentina. gabrielamendeluk@fibertel.com.ar
G R
GR
Mendeluk
E M
EM
Pardes
S
S
López-Costa
D000328:Adult; D053714:Aspermia / Q000150:complications / Q000235:genetics*; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012559:Schizophrenia / Q000150:complications / Q000235:genetics*; D012729:Sex Chromosome Aberrations