Recombinant Down syndrome: a case report and literature review.

doi:10.1034/j.1399-0004.2001.590211.x

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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...

Topics

Child
Chromosome Aberrations
Chromosome Banding
Chromosome Inversion
Chromosomes, Human, Pair 21
Down Syndrome
Female
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Phenotype
Trisomy

Source

Open in PubMed

Identifiers

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

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