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

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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[right arrow]3p25.1[tilde operator]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.

(J Med Genet 1999;36:343-345)

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