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

19 Jan 2007

Abstract excerpt

A 4.3 Mb duplication of chromosome 21 bands q22.13-q22.2 was diagnosed by interphase fluorescent in-situ hybridisation (FISH) in a 31-week gestational age baby with cystic hygroma and hydrops; the duplication was later found in the mother and in her 8-year-old daughter by the same method and confirmed by array comparative genomic hybridisation (aCGH). All had the facial gestalt of Down syndrome (DS). This is the...

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Identifiers

PMID: 17237124
DOI: 10.1136/jmg.2006.047373

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