7q11.23 Microduplication: a recognizable phenotype
7q11.23 Microduplication: a recognizable phenotype
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DOI：
10.1111/j.1399-0004.2012.01862.x
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发表时间：
2013-02-01
影响因子：
3.5
通讯作者：
Sarkar, A.
中科院分区：
文献类型：
--
作者：
Dixit, A.;McKee, S.;Sarkar, A.
Diplomas A，McKee S，Mansour S，Mehta SG，Tanteles GA，Anastasiadou V，Patsalis PC，Martin K，McCullough S，Suri M，Sarkar A. 7q11.23微重复：一种可识别的表型。Williams-Beuren综合征是一种常见的微缺失综合征，具有可识别的临床表型。Williams-Beuren临界区的相互微复制的微妙表型最近已被描述。我们报告了另外7例患者，和一个传递父母，与7q11.23微重复。我们所有的病人都有语言延迟，自闭症特征和面部畸形与已发表的文献一致。我们的结论是，存在特定的畸形特征，包括直，整齐的眉毛，薄嘴唇和短的人中，在我们的患者与语言延迟和自闭症功能提供了进一步的证据表明，7q11.23微重复的儿童具有可识别的表型。
Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. 7q11.23 Microduplication: a recognizable phenotype. Williams-Beuren syndrome is a well-known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams-Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism consistent with the published literature. We conclude that the presence of specific dysmorphic features, including straight, neat eyebrows, thin lips and a short philtrum, in our patients with speech delay and autistic features provides further evidence that the children with 7q11.23 microduplication have a recognizable phenotype.