Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Podobne zapisy

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• No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in “Mirror” duplications of chromosome 21
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  od: Tharapel, A T, i wsp.
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• A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
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