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 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.
Wahlström
J
J
Department of Clinical Genetics, Sahlgrenska University Hospital/East, Gothenburg, Sweden.
Uller
A
A
Johannesson
T
T
Holmqvist
D
D
Darnfors
C
C
Vujic
M
M
Tonnby
B
B
Hagberg
B
B
Martinsson
T
T
D002648:Child; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015518:Rett Syndrome / Q000235:genetics*