Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p.
case_report · Level V
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- Record sourced from PubMed, PMID 10227408.
- Also identified by PMC identifier 1734344.
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Abstract
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 approximately 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.
Medical subject headings
- Chromosomes, Human, Pair 3
- Gene Deletion
- Rett Syndrome