IS ANGELMAN SYNDROME AN ALTERNATE RESULT OF DEL(15)(Q11Q13)
IS ANGELMAN SYNDROME AN ALTERNATE RESULT OF DEL(15)(Q11Q13)
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DOI：
10.1002/ajmg.1320280407
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发表时间：
1987-12-01
期刊：
影响因子：
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通讯作者：
LAFRANCHI, S
中科院分区：
文献类型：
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作者：
MAGENIS, RE;BROWN, MG;LAFRANCHI, S
两名无关的女性，年龄分别为 15 岁和 5 岁，因严重智力低下、癫痫发作和共济失调样失调而接受了细胞遗传学研究。两名患者都发现了类似的 15 号染色体近端长臂缺失。重新评估显示没有贪婪的食欲或肥胖；手脚大小正常，病史或检查显示肌张力减退极小甚至没有，面部特征不属于普瑞德-威利综合征的典型特征。然而，这些女孩的面部外观彼此相似，具有轻度的距离过远。这些女孩的相似性和与普瑞德威利综合征的不同之处表明存在不同的综合征，可能是 15q 不同片段缺失的结果。共济失调样运动、频繁、无端且长时间的大笑和面部表情的发现更符合天使综合征的诊断。
Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia‐like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients.Re‐evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader‐Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism.The similarity of these girls and dissimilarity to Prader‐Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic‐like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.