Document Detail

Autosomal Trisomies and Partial Trisomy Syndromes: (With Presentation of Two Cases of Partial Trisomy for the E Group of Chromosomes).
MedLine Citation:
PMID:  20327419     Owner:  NLM     Status:  PubMed-not-MEDLINE    
The establishing of 46 chromosomes as the normal complement in man and the report of the sex chromatin bodies in buccal smears were followed by reports of trisomies and other abnormal patterns of the X and Y chromosomes in Klinefelter's and Turner's syndromes. Abnormal autosomal complements were described in mongolism, in the E-trisomy syndrome, the D-trisomy syndrome, in the Sturge-Weber syndrome, Waldenstrom's macroglobulinemia, benign congenital hypotonia, atrial septal defect and in the schizoid personality. Certain of these conditions, as well as the "oral-facial-digital" syndrome, were also found to exist as partial trisomies. The mechanism of a trisomy is one of non-disjunction and of partial trisomy translocation or insertion. Two cases of the partial trisomy in the E group are described; these are of especial interest because of the familial incidence, longer survival and male sex occurrence, features which are rarely seen in the full E-trisomy syndrome.
W A Zaleski
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Canadian Medical Association journal     Volume:  88     ISSN:  0008-4409     ISO Abbreviation:  Can Med Assoc J     Publication Date:  1963 Feb 
Date Detail:
Created Date:  2010-06-24     Completed Date:  2010-06-24     Revised Date:  2010-09-30    
Medline Journal Info:
Nlm Unique ID:  0414110     Medline TA:  Can Med Assoc J     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  389-96     Citation Subset:  -    
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