Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
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虹膜缺损、上睑下垂、距离过远和智力低下：一种可能位于 2 号染色体上的新综合征。
DOI：
10.1136/jmg.28.5.342
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发表时间：
1991
影响因子：
4
通讯作者：
R. Pallotta
中科院分区：
文献类型：
--
作者：
R. Pallotta
一名患者的表型与最近报道的三名儿童的表型相似。他的核型显示 2 号染色体出现中心周倒位，与之前报道的另一个孩子非常相似。我们讨论所有这些病例构成一种独特综合症的可能性。
A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.