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Results 1 - 10 of 25 for Uniparental isodisomy
  1. What are genomic imprinting and uniparental disomy?: MedlinePlus Genetics 
    Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. People usually inherit two copies of each gene—one ...
    https://medlineplus.gov/.../understanding/inheritance/updimprinting - Genetics
  2. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    National Center for Biotechnology Information ... Genetic Testing/Reference Desk ... Genetic Testing ... Newborn Screening/Reference Desk ... Newborn Screening ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  3. 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
  4. 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
  5. Prader-Willi Syndrome (PWS): Other FAQs From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Eunice Kennedy Shriver National Institute of Child Health and Human Development ... Prader-Willi Syndrome/Learn More ... Prader-Willi Syndrome ... From the National ...
    https://www.nichd.nih.gov/.../more_information/other-faqs - External Health Links
  6. Chromosome 14 
    ... can also result from a chromosome abnormality called uniparental disomy (UPD). UPD occurs when people inherit both copies ... CA, Bass NE, Zinn AB, Schwartz S. Maternal uniparental disomy chromosome 14: case report and literature review. Pediatr ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  7. 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
  8. 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
  9. 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
  10. 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
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