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首页> 外文期刊>Journal of communication disorders >Clinical management of a child with Prader-Willi Syndrome from maternal uniparental disomy (UPD) genetic inheritance.
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Clinical management of a child with Prader-Willi Syndrome from maternal uniparental disomy (UPD) genetic inheritance.

机译：从母亲单亲二体性（UPD）遗传继承中患有Prader-Willi综合征的儿童的临床管理。

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摘要

Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated with PWS. Case studies can provide information to understand relationships between phenotypic characteristics and genetic inheritance, which can in turn lead to effective clinical management. The purpose of this case study was to describe the characteristics of a child with PWS due to maternal uniparental disomy inheritance pattern and to describe clinical management and treatment outcomes. LEARNING OUTCOMES: The reader will obtain information about: (1) the genetic inheritance patterns and clinical characteristics of Prader-Willi Syndrome, (2) genotypic/phenotypic relationships specific to Prader-Willi Syndrome, and (3) clinical implications, management, and outcomes in a case description of a child with PWS due to maternal uniparental disomy inheritance pattern.
机译：在10,000-15,000个个体中，有1个报告了Prader-Willi综合征（PWS）。不幸的是，由于临床医生缺乏对该综合征以及临床和实验室诊断标准的了解，因此错过了许多病例。尽管已报道了常见的临床特征，但与PWS相关的功能障碍的性质和严重程度存在差异。案例研究可以提供信息，以了解表型特征与遗传遗传之间的关系，进而可以进行有效的临床管理。本案例研究的目的是描述由于母体单亲二体遗传模式而导致的PWS儿童的特征，并描述临床管理和治疗结果。学习成果：读者将获得以下信息：（1）Prader-Willi综合征的遗传遗传模式和临床特征，（2）Prader-Willi综合征特有的基因型/表型关系，以及（3）临床意义，管理和因母体单亲二体性遗传模式而患PWS的儿童的病例描述的结局。

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