Document Detail


Double aneuploidy. Turner-Down syndrome.
MedLine Citation:
PMID:  127528     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Double aneuploidy involving Down and Turner syndromes is a rare occurrence. Of the six patients reported to have combined Down and Turner syndromes, four fundamentally different forms of chromosome mosaicism have been noted and all have been mosaic with respect to monosomy X. Reported here is the first example of a Turner-Down patient in whom there is no X mosaicism. The different forms of the double aneuploidy cannot be explained by any single combination of nondisjunctional errors. The clinical findings in these patients and the several mechanisms of nondisjunctional error that may account for the observed forms of aneuploidy are reviewed and discussed.
Authors:
P L Townes; M R White; S J Stiffler; K Goh
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of diseases of children (1960)     Volume:  129     ISSN:  0002-922X     ISO Abbreviation:  Am. J. Dis. Child.     Publication Date:  1975 Sep 
Date Detail:
Created Date:  1976-01-16     Completed Date:  1976-01-16     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370471     Medline TA:  Am J Dis Child     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1062-5     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Aneuploidy*
Child
Child, Preschool
Chromosome Aberrations / diagnosis
Chromosome Disorders
Chromosomes, Human, 21-22 and Y
Down Syndrome / diagnosis,  genetics*
Female
Humans
Infant
Karyotyping
Mosaicism
Sex Chromosomes
Turner Syndrome / diagnosis,  genetics*

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


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