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Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up

1 Jul 2000

Abstract excerpt

To our knowledge, 22 cases of chromosome 14 maternal uniparental disomy (UPD(14)mat) have been reported so far. The majority of cases were ascertained because of an abnormal phenotype associated with a Robertsonian translocation involving chromosome 14. We report here on a child with UPD(14)mat detected prenatally and resulting from trisomy rescue in a maternal meiosis I non-disjunction trisomic zygote. After...

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PMID: 10882756
DOI: 10.1136/jmg.37.7.525

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