Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-022-01088-z.pdf
Reference12 articles.
1. Buiting K, Williams C, Horsthemke B. Angelman syndrome - insights into a rare neurogenetic disorder. Nat Rev Neurol. 2016;12:584–93.
2. Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, et al. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet. 2011;155:81–90.
3. Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, et al. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15. Clin Genet. 2000;57:349–58.
4. Martin RH, Ko E, Rademaker A. Distribution of aneuploidy in human gametes: Comparison between human sperm and oocytes. Am J Med Genet. 1991;39:321–31.
5. Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental disomy and human disease: An overview. Am J Med Genet Part C Semin Med Genet. 2010;154:329–34.
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1. Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients;Human Genetics and Genomics Advances;2024-10
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