Document Detail

A further 46,XYp- female.
MedLine Citation:
PMID:  3265309     Owner:  NLM     Status:  MEDLINE    
A 24-year-old female with a Swyer syndrome phenotype was found to have a 46,X,del (Y) (p11) karyotype. This observation is consistent with the recently confirmed assignment of the testis-determining master gene to the deletion interval 1A of the Y (Page et al., 1987). Otherwise, it illustrates the etiological heterogeneity of the Swyer phenotype and allows to emphasize the de novo origin of XYp-females.
H Rivera; M Moller; L M Baltazar; A Escalante-Herrera; D Garcia-Cruz
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annales de génétique     Volume:  31     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1988  
Date Detail:
Created Date:  1989-03-09     Completed Date:  1989-03-09     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  244-6     Citation Subset:  IM    
División de Genética, Subjefatura de Investigación Científica, Hospital de Especialidades, Guadalajara, Mexico.
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MeSH Terms
Chromosome Deletion
Sex Chromosome Aberrations*
Sex Differentiation Disorders / genetics*
Y Chromosome / ultrastructure*

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