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Objective: Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. Patients with PWS are often too young to manifest sufficient features or have atypical findings, making genetic testing important to confirm the diagnosis of PWS. Approximately 99

来源:北京大学学报(医学版) 2005 年 37卷 1期

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来源:
北京大学学报(医学版) 2005 年 37卷 1期
标签:
Prader-Willi综合征 多重连接探针扩增法 基因缺失 遗传筛查 Prader-Willi syndrome Multiplex ligation-dependent probe amplification Gene deletion Genetic screening
Objective: Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. Patients with PWS are often too young to manifest sufficient features or have atypical findings, making genetic testing important to confirm the diagnosis of PWS. Approximately 99