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

Authors
Wahlstrom, J Uller, A Johannesson, T Holmqvist, D Darnfors, C Vujic, M Tonnby, B Hagberg, B Martinsson, T
Citation
J. Wahlstrom et al., Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p, J MED GENET, 36(4), 1999, pp. 343-345
Citations number
10
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
36
Issue
4
Year of publication
1999
Pages
343 - 345
Database
ISI
SICI code
0022-2593(199904)36:4<343:CVRSIA>2.0.ZU;2-9
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 o f chromosome 3p, del(3) (pter-->3p25.1 similar to 25.2). The deletion was s ituated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263 .