小头畸形
精神运动学习
精神运动迟缓
比较基因组杂交
儿科
发育障碍
癫痫
智力残疾
自闭症
医学
遗传学
染色体
生物
基因
精神科
认知
病理
替代医学
作者
Fangfang Wang,Rong Luo,Bin Zhou,Tao Yu,Xiaolu Chen
出处
期刊:Chinese journal of medical genetics
日期:2017-10-10
卷期号:34 (5): 671-675
标识
DOI:10.3760/cma.j.issn.1003-9406.2017.05.011
摘要
To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene.The clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review.The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases. Magnetic resonance imaging has documented heterotopic gray matter changes. aCGH showed a 1.9 Mb triplication in the 14q12 region, which involved the FOXG1 and a predicted gene 14orf23.For patients with early-onset severe psychomotor retardation, epilepsy, microcephaly, severe cognitive impairment and encephalodysplasia, analysis of copy number variations and mutations of the FOXG1 gene is crucial for the diagnosis.
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