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(2023-01-31 23:38):
#paper doi: 10.1016/j.pcl.2015.03.004. Pediatr Clin North Am, 2015, Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes, 15号染色体区段15q11-q13上的缺失或者重复会导致三种综合征，Prader-Willi 综合征, Angelman 综合征和 15q11-q13 duplication 综合征。这篇综述文章总结了这三种综合征的临床背景信息、遗传机制、诊断策略以及治疗方案。通过这篇文章能够清楚地了解这三种综合征之间的异同。
IF:2.100Q2
Pediatric clinics of North America,
2015-Jun.
DOI: 10.1016/j.pcl.2015.03.004
PMID: 26022164
Abstract:
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from …
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Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from the loss of function or overexpression of at least 1 imprinted gene. This article discusses the clinical background, genetic cause, diagnostic strategy, and management of each of these 3 disorders.
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