一名儿童中脆性X综合征、罗伯逊易位（13, 22）与自闭症的关联。
Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child.
作者信息
Rachisan Andreea Liana, Niculae Alexandru Stefan, Tintea Ioana, Pop Bianca, Militaru Mariela, Bizo Aurel, Hrusca Adrian
机构信息
Department of Pediatrics II, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Department of Pediatrics Neurology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
出版信息
Clujul Med. 2017;90(4):445-448. doi: 10.15386/cjmed-763. Epub 2017 Oct 20.
We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X syndrome, and the patient also has a prior diagnosis of autism spectrum disorder. We emphasize the challenges in his behavioral management and outline future directions for his management.
我们描述了一名患有脆性X综合征和罗伯逊易位（45，XY，der（13；22）（q10；q10））的6岁男孩的病例。这是首例报道的患有这种罗伯逊易位的脆性X综合征患者。面部特征和巨睾症与脆性X综合征相符。认知障碍比他患有脆性X综合征的兄弟姐妹更严重，并且该患者之前还被诊断患有自闭症谱系障碍。我们强调了其行为管理方面的挑战，并概述了其管理的未来方向。
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