Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p |
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| Authors: | Wahlström J Uller A Johannesson T Holmqvist D Darnfors C Vujic M Tonnby B Hagberg B Martinsson T |
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| Affiliation: | Department of Clinical Genetics, Sahlgrenska University Hospital/East, Gothenburg, Sweden. |
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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. |
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| Keywords: | chromosome 3 deletion Rett syndrome |
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