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Article

Recombinant Down syndrome: a case report and literature review.

Clinical genetics - 1 Feb 2001

Lazzaro S J, Speevak M D, Farrell S A

Abstract excerpt

We report a case of a child with features of Down syndrome (DS) but with an atypical karyotype. Initial chromosome analysis was 46,XX,dup(21q).ish 21(wcp21+). The father's chromosomes were normal. However, the mother was found to have mosaicism for a pericentric inversion of chromosome 21 (19/30 cells). The revised chromosome result of the child was 46,XX,rec(21)dup(21q)inv(21)(p12q21.1)mat. A literature review...

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Identifiers

PMID: 11260215
DOI: 10.1034/j.1399-0004.2001.590211.x

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