Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons.
Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons.
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Angelman 综合征 15q 缺失的发生率：对 12 名受影响者的调查。
DOI：
10.1002/ajmg.1320320313
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Eduardo S. Cantú
中科院分区：
文献类型：
--
作者：
Charles A. Williams;Brian A. Gray;J. Hendrickson;John W. Stone;Eduardo S. Cantú
对12例确诊为Angelman综合征的患者进行的前中期染色体研究表明，5例患者的15 q12缺失与Prader-Willi综合征中常见的缺失相似。表型-核型相关性未显示缺失和未缺失的患者之间有任何明显的临床差异，Angelman和Prader-Willi综合征之间无明显的临床重叠。我们的调查表明，15 q12缺失在Angelman综合征中很常见，但缺失的存在似乎不能区分不同的临床表型。Prader-Willi综合征的细胞遗传学研究经验预测，15条染色体异常的存在与Angelman综合征的临床表现之间将出现相当大的复杂性。
Prometaphase chromosome study of 12 persons with an established diagnosis of the Angelman syndrome demonstrated that 5 had a 15q12 deletion appearing similar to that commonly observed in the Prader-Willi syndrome. Phenotype-karyotype correlation did not show any obvious clinical differences between those with and those without the deletion and no clinical overlap between Angelman and Prader-Willi syndrome was apparent. Our survey suggests that 15q12 deletions are frequent in Angelman syndrome but presence of the deletion does not appear to distinguish different clinical phenotypes. Experience with the cytogenetic study of Prader-Willi syndrome predicts that considerable complexity will emerge between the presence of 15 chromosome abnormalities and clinical expression of Angelman syndrome.
DOI：
10.1002/ajmg.1320230307
发表时间：
1986-03-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
BUTLER, MG;MEANEY, FJ;PALMER, CG
通讯作者：
PALMER, CG
近端 15q 缺失，无 Prader-Willi 综合征。
DOI：
10.1002/ajmg.1320280405
发表时间：
1987
期刊：
American journal of medical genetics
影响因子：
--
作者：
Greenberg,F;Ledbetter,DH
通讯作者：
Ledbetter,DH