title: Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.
abstract: 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.affiliation: Département de génétique, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: I
authors.initials: I
authors.lastname: Radford
authors.forename: G
authors.initials: G
authors.lastname: Viot
authors.forename: P
authors.initials: P
authors.lastname: Edery
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: M
authors.initials: M
authors.lastname: Tardieu
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005817:Genetic Counseling; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D011110:Polymorphism, Genetic; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers