Document Detail


Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.
MedLine Citation:
PMID:  10818219     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We identified a case of familial satellited chromosome 4q through a child with cerebellar ataxia and mental retardation. No loss of genetic material could be demonstrated at the molecular level but other possible mechanisms of this association are discussed. We conclude that in these cases genetic counselling should be reassuring.
Authors:
L Faivre; I Radford; G Viot; P Edery; A Munnich; M Tardieu; M Vekemans
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annales de génétique     Volume:  43     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:    2000 Jan-Mar
Date Detail:
Created Date:  2000-06-30     Completed Date:  2000-06-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  35-8     Citation Subset:  IM    
Affiliation:
Département de génétique, Hôpital Necker Enfants Malades, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Adult
Cerebellar Ataxia / genetics*
Child
Chromosome Mapping
Chromosomes, Human, Pair 4*
Female
Genetic Counseling
Genetic Markers
Humans
Karyotyping
Male
Mental Retardation / genetics*
Polymorphism, Genetic
Translocation, Genetic
Chemical
Reg. No./Substance:
0/Genetic Markers

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


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