Document Detail


The ratio of de novo unbalanced translocation to 47, trisomy 21 Down syndrome. A new method for human mutation surveillance and an apparent recent change in mutation rate resulting in human interchange trisomies in one jurisdiction.
MedLine Citation:
PMID:  152869     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The Down syndrome phenotype may be associated with, among other genotypes, an unbalanced Robertsonian translocation producing an "interchange trisomy" with 46 chromosomes, or 47, trisomy 21. Translocations, like specificlocus point mutations, result from a direct change in structural chromosome elements. In contrast 47, trisomy 21 results from meiotic non-disjunction. Mutation rates for interchange trisomies may be followed indirectly by determining the ratio of instances of Down syndrome associated with a new translocation mutation to those produced by 47, trisomy 21, which accounts for the bulk of the Down syndrome phenotype. This genotypic ratio can be analyzed in data from cytogenetic laboratories, clinics, and chromosome registries and does not depend upon intensive chromosome screening of newborn populations. A similar approach can be adopted to follow trends in Patau syndrome. The genotypic ratio, stratified by maternal age, may in addition, provide a sentinel index for changes in human specific-locus mutations and perhaps other adverse health consequences. Analysis of data from the New York State-North-eastern chromosome registry revealed a two- to three-fold increase in the genotypic ratio for both Down syndrome and Patau syndrome for individuals born in 1973, 1974 and 1975 compared to those born in earlier years.
Authors:
E B Hook
Related Documents :
6846399 - Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22).
2262139 - Two autosomal trisomies in the horse: 64,xx,-26,+t(26q26q) and 65,xx,+30.
7950479 - Cytogenetic and molecular abnormalities in chronic lymphocytic leukaemia.
9305599 - Unbalanced t(3;12) in a case of juvenile myelomonocytic leukemia (jmml) results in part...
7117289 - The trisomy 4p syndrome: a case report.
16677859 - Down syndrome mouse models are looking up.
2417699 - Alterations in the x chromosome replication pattern induced by 5-azacytidine in a human...
16979349 - Organization of the escherichia coli chromosome into macrodomains and its possible func...
1055399 - Chromosome measurement and sorting by flow systems.
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Mutation research     Volume:  52     ISSN:  0027-5107     ISO Abbreviation:  Mutat. Res.     Publication Date:  1978 Dec 
Date Detail:
Created Date:  1979-02-26     Completed Date:  1979-02-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0400763     Medline TA:  Mutat Res     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  427-39     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Down Syndrome / epidemiology,  genetics*
Genotype
Humans
Mutation
New York
Phenotype
Translocation, Genetic*

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


Previous Document:  A cyst of the spleen in a patient with schistosomiasis. Its detection by laparoscopy (author's trans...
Next Document:  Cilia with defective radial spokes: a cause of human respiratory disease.