Document Detail


An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-->q11.2::q11.2-->pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads.
MedLine Citation:
PMID:  8989464     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AN infant with mixed gonadal dysgenesis was found to have a 45,X/46,Xpsu dic(Y) karyotype. A low level (8%) of mosaicism for the dic(Y) cell line was observed in peripheral blood lymphocytes and skin fibroblasts. The dicentric nature of the Y chromosome became apparent in fluorescence in situ hybridization studies. The presence of Y centromeric sequences was demonstrated in the paraffin-embedded testis and streak ovary sections. The ration of Y-positive cells was higher in the testis than in the streak ovary.
Authors:
K S Reddy; V Sulcova; C K Ho; E D Conner; A Khurana
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  66     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-03-11     Completed Date:  1997-03-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  441-4     Citation Subset:  IM    
Affiliation:
Cytogenetics Laboratory, Corning Nichols Institute, San Juan Capistrano, California 92690-6130, USA.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Aberrations*
Chromosome Banding
Female
Gonadal Dysgenesis / genetics*,  pathology
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Male
Mosaicism*
Ovary / embryology,  pathology
Testis / pathology
X Chromosome*
Y Chromosome*

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


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