Document Detail

45,X/46,XY qh- karyotype and aspermia. A case report.
MedLine Citation:
PMID:  23074959     Owner:  NLM     Status:  In-Process    
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.
G R Mendeluk; E M Pardes; S López-Costa
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  T͡Sitologii͡a i genetika     Volume:  46     ISSN:  0564-3783     ISO Abbreviation:  Tsitol. Genet.     Publication Date:    2012 Jul-Aug
Date Detail:
Created Date:  2012-10-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0101671     Medline TA:  Tsitol Genet     Country:  Ukraine    
Other Details:
Languages:  eng     Pagination:  27-30     Citation Subset:  IM    
Laboratory of Male Fertility, Department of Clinical Biochemistry, Faculty of Pharmacy and Biochemistry, INFIBIOC, University of Buenos Aires, Argentina.
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