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Article

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

American journal of human genetics - 1 Nov 1993

Blouin J L, Avramopoulos D, Pangalos C, Antonarakis S E

Abstract excerpt

Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, we analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21...

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Identifiers

PMID: 8213833
PMCID: PMC1682298

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