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Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint.
Valente KD, Varela MC, Koiffmann CP, Andrade JQ, Grossmann R, Kok F, Marques-Dias MJ. Valente KD, et al. Epilepsy Res. 2013 Jul;105(1-2):234-9. doi: 10.1016/j.eplepsyres.2012.12.005. Epub 2013 Jan 23. Epilepsy Res. 2013. PMID: 23352739
OBJECTIVES: Deletion of the chromosome 15q11-q13, the most common genetic mechanism associated with Angelman syndrome (AS), is highly associated with a severe phenotype. ...In this study, we aimed to evaluate the impact of the breakpoint …
OBJECTIVES: Deletion of the chromosome 15q11-q13, the most common genetic mechanism associated with Angelman syndrom …
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Burnside RD, et al. Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27. Hum Genet. 2011. PMID: 21359847 Free PMC article.
The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman …
The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints …