10q远端三体综合征：1例q24.31 - qter重复、患有自闭症谱系障碍及具有异常特征患者的报告
Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.
作者信息
Al-Sarraj Yasser, Al-Khair Hakam Abu, Taha Rowaida Ziad, Khattab Namat, El Sayed Zakaria H, Elhusein Bushra, El-Shanti Hatem
机构信息
Shafallah Medical Genetics Center Doha, Qatar.
Shafallah Center for Children with Special Needs Doha, Qatar.
出版信息
Clin Case Rep. 2014 Oct;2(5):201-5. doi: 10.1002/ccr3.94. Epub 2014 Jul 25.
Abstract
We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy.
摘要
我们报告了一例患有10q远端三体综合征的患者，该患者表现出一些以前未描述过的身体特征以及自闭症谱系障碍（ASD）。我们建议，患有10q远端三体综合征的患者应接受针对ASD的行为评估，以便尽早开始治疗。
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