Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1∼25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion break...

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Bibliographic Details
Published in:Journal of medical genetics 1999-04, Vol.36 (4), p.343-345
Main Authors: Wahlström, Jan, Uller, Anna, Johannesson, Tonnie, Holmqvist, Deborah, Darnfors, Catarina, Vujic, Mihailo, Tonnby, Bernt, Hagberg, Bengt, Martinsson, Tommy
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Chromosome 3
Chromosome deletion
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 3 - genetics
Congenital diseases
Cytogenetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
deletion
Deoxyribonucleic acid
DNA
Female
Gene Deletion
Girls
Humans
In Situ Hybridization, Fluorescence
Medical sciences
Neurology
Rett syndrome
Rett Syndrome - genetics
Short Report
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Summary:A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1∼25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.36.4.343