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 a...

Full description

Saved in:
Bibliographic Details
Published in:Cytology and genetics 2012-07, Vol.46 (4), p.217-219
Main Authors: Mendeluk, G. R., Pardes, E. M., López-Costa, S.
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Human Genetics
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0095-4527
1934-9440
DOI:10.3103/S0095452712040111