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J Med Genet. 1999 Apr;36(4):343-5.

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

Author information

1
Department of Clinical Genetics, Sahlgrenska University Hospital/East, Gothenburg, Sweden.

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.

PMID:
10227408
PMCID:
PMC1734344
[Indexed for MEDLINE]
Free PMC Article

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