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Uniparental Disomy

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Definition: The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).      Other names Uniparental Isodisomies; Uniparental Heterodisomies; Uniparental Disomies; Isodisomies, Uniparental; Heterodisomy, Uniparental; Heterodisomies, Uniparental; Disomies, Uniparental; Uniparental Isodisomy; Uniparental Heterodisomy; Disomy, Uniparental
 
SubstanceCAS Registry & nameCategoriesSource
Chromosome 10, uniparental disomy of  0   *Trisomy *Uniparental Disomy Chromosomes, Human, Pair 10 Mosaicism.
Chromosome 1, uniparental disomy 1q12 q21  0   *Trisomy *Uniparental Disomy Chromosomes, Human, Pair 1 Mosaicism.
Chromosome 16, uniparental disomy  0   *Uniparental Disomy Chromosomes, Human, Pair 16.
Chromosome 15, trisomy mosaicism  0   *Trisomy *Uniparental Disomy Chromosomes, Human, Pair 15 Mosaicism.
Chromosome 8, mosaic trisomy  0   *Trisomy *Uniparental Disomy Chromosomes, Human, Pair 8 Mosaicism.
Chromosome 7, trisomy mosaic  0   *Trisomy *Uniparental Disomy Chromosomes, Human, Pair 7 Mosaicism.
Chromosome 5, uniparental disomy  0   *Cri-du-Chat Syndrome *Trisomy *Uniparental Disomy Chromosomes, Human, Pair 5 Mosaicism.
Trisomy 22 mosaicism syndrome  0   *Trisomy *Uniparental Disomy *Chromosome Disorders Chromosomes, Human, Pair 22 Mosaicism.
Chromosome 21, uniparental disomy of  0   *Trisomy *Uniparental Disomy Chromosomes, Human, Pair 21 Mosaicism.
Uniparental disomy, paternal, chromosome 14  0   *Uniparental Disomy Chromosomes, Human, Pair 14.
Uniparental disomy of chromosome 2  0   *Uniparental Disomy Chromosomes, Human, Pair 2.
Uniparental disomy of 13  0   *Uniparental Disomy Chromosomes, Human, Pair 13.
Uniparental disomy of 11  0   *Uniparental Disomy Chromosomes, Human, Pair 11.
Chromosome 9, trisomy mosaic  0   *Trisomy *Uniparental Disomy Chromosomes, Human, Pair 9 Mosaicism.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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