Document Detail


Pericentric inversion (13) with two different recombinants in the same family.
MedLine Citation:
PMID:  7205907     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A family is described in which a pericentric inversion (13) was discovered in the father after the birth of an abnormal baby. In a further pregnancy amniocentesis was carried out. The fetal karyotype showed a rec(13)dup p,inv(13)(p11q22). The fetus's abnormalities were similar to those observed in the first child. Family studies showed that a first cousin, mentally retarded, had a rec(13)dup q,inv(13)(p11q22) karyotype. In this family, the risk of occurrence of a recombinant in offspring of an inversion carrier could be as high as 40%.
Authors:
E M Williamson; J F Miller; M Seabright
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  17     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1980 Aug 
Date Detail:
Created Date:  1981-05-13     Completed Date:  1981-05-13     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  309-12     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Adult
Chromosome Inversion*
Chromosomes, Human, 13-15 / ultrastructure*
Female
Genetic Counseling
Humans
Infant, Newborn
Male
Mental Retardation / genetics
Pedigree
Phenotype
Recombination, Genetic
Risk
Comments/Corrections

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


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