Document Detail

Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.
MedLine Citation:
PMID:  10818219     Owner:  NLM     Status:  MEDLINE    
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.
L Faivre; I Radford; G Viot; P Edery; A Munnich; M Tardieu; M Vekemans
Related Documents :
18282819 - A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication an...
3228999 - Complex chromosome rearrangements involving chromosomes 1;3 and 2;3 in two abnormal chi...
7726229 - Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for th...
19931159 - Chromosomal microarray interpretation: what is a child neurologist to do?
12910499 - Isolated postaxial polydactyly type b with mosaicism of a submicroscopic unbalanced tra...
1956059 - 49,xxxxy syndrome: behavioural and developmental profiles.
3195589 - Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase ...
18428259 - Collecting and handling samples for parentage and forensics dna-based genetic testing.
9228009 - Mitosis in living budding yeast: anaphase a but no metaphase plate.
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    
Département de génétique, Hôpital Necker Enfants Malades, Paris, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Cerebellar Ataxia / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 4*
Genetic Counseling
Genetic Markers
Mental Retardation / genetics*
Polymorphism, Genetic
Translocation, Genetic
Reg. No./Substance:
0/Genetic Markers

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

Previous Document:  Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unkn...
Next Document:  Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosai...