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Results 1 - 8 of 8 for Uniparental isodisomy
  1. Microcephaly-capillary malformation syndrome 
    ... of the STAMBP gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  2. Molybdenum cofactor deficiency 
    ... of the MOCS1 gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the ...
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency - Genetics
  3. Prader-Willi syndrome 
    ... from each parent. This situation is called maternal uniparental disomy. Rarely, Prader-Willi syndrome can also be caused ... in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during ...
    https://medlineplus.gov/genetics/condition/prader-willi-syndrome - Genetics
  4. Angelman syndrome 
    ... from each parent. This phenomenon is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by ... in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during ...
    https://medlineplus.gov/genetics/condition/angelman-syndrome - Genetics
  5. 6q24-related transient neonatal diabetes mellitus 
    ... caused by a genetic change known as paternal uniparental disomy (UPD) of chromosome 6. In paternal UPD, people ... are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random ...
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus - Genetics
  6. Silver-Russell syndrome 
    ... Testing Registry: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Genetic Testing Registry: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome National Organization ...
    https://medlineplus.gov/genetics/condition/silver-russell-syndrome - Genetics
  7. Beckwith-Wiedemann syndrome 
    ... caused by a genetic change known as paternal uniparental disomy (UPD). Paternal UPD causes people to have two ... R, Macdonald F, Maher ER. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics. 2007 May;89( ...
    https://medlineplus.gov/.../condition/beckwith-wiedemann-syndrome - Genetics
  8. Donnai-Barrow syndrome 
    ... as a result of a genetic change called uniparental disomy (UPD). UPD occurs when a person receives two ...
    https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome - Genetics