Document Detail


A case of complete testicular feminisation and 47,XXY karyotype.
MedLine Citation:
PMID:  575389     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.
Authors:
M Gerli; G Migliorini; V Bocchini; G Venti; R Ferrarese; E Donti; G Rosi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  16     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1979 Dec 
Date Detail:
Created Date:  1980-05-23     Completed Date:  1980-05-23     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  480-3     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Androgen-Insensitivity Syndrome / genetics*
DNA Replication
Female
Humans
Karyotyping
Male
Pedigree
Sex Chromatin / ultrastructure
Sex Chromosome Aberrations / genetics*
Syndrome
X Chromosome
Comments/Corrections

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


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