Document Detail


45,X/46,XY qh- karyotype and aspermia. A case report.
MedLine Citation:
PMID:  23074959     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
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.
Authors:
G R Mendeluk; E M Pardes; S López-Costa
Related Documents :
822729 - Translocation of y chromosome to an autosome in the bolivian owl monkey, aotus.
12958079 - Dosage-sensitive x-linked locus influences the development of amygdala and orbitofronta...
23029069 - High-density snp genotyping of tomato (solanum lycopersicum l.) reveals patterns of gen...
22778409 - Up-regulation of the mitotic checkpoint component mad1 causes chromosomal instability a...
24315599 - Northern slavs from serbia do not show a founder effect at autosomal and y-chromosomal ...
23665879 - Molecular population genetics of inversion breakpoint regions in drosophila pseudoobscura.
3956699 - Hematocrit and hemoglobin concentration in four chromosomal species and some isolated p...
1283319 - Chromosome 1 alterations in breast cancer: allelic loss on 1p and 1q is related to lymp...
1183229 - Mutagenic activity of hydrazine and its combinations with maleic mydrazide and x-rays i...
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    
Affiliation:
Laboratory of Male Fertility, Department of Clinical Biochemistry, Faculty of Pharmacy and Biochemistry, INFIBIOC, University of Buenos Aires, Argentina. gabrielamendeluk@fibertel.com.ar
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  [Estimation of the genetic variability of amaranth collection (Amaranthus L.) with RAPD-analysis].
Next Document:  [ESR1 gene allelic polymorphism analysis in population of Ukraine].