Document Detail


Apparent SMA I unlinked to 5q.
MedLine Citation:
PMID:  8014975     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband and his healthy 2 year old sib had inherited the same haplotypes for DNA markers flanking the SMA locus on 5q. This supports non-linkage of SMA to chromosome 5q in this family. The consanguinity of the parents raises the possibility of a second locus for autosomal recessive SMA type I outside the 5q12-13 region. This may have implications for genetic counselling after prenatal diagnosis in consanguineous families. Furthermore, this case illustrates the importance of the inclusion of all healthy sibs in prenatal DNA studies for SMA type I.
Authors:
J M Cobben; H Scheffer; M de Visser; J H Begeer; W M Molenaar; G van der Steege; C H Buys; G J van Ommen; L P Ten Kate
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  31     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1994 Mar 
Date Detail:
Created Date:  1994-07-27     Completed Date:  1994-07-27     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  242-4     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, Antonius Deusinglaan, Groningen, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Chromosomes, Human, Pair 5*
Consanguinity
Genes, Recessive
Humans
Infant, Newborn
Linkage (Genetics)
Male
Pedigree
Spinal Muscular Atrophies of Childhood / genetics*
Comments/Corrections

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