张力减退
智力残疾
基因复制
自闭症谱系障碍
表型
自闭症
遗传学
语音延迟
拷贝数变化
基因
医学
生物
基因组
精神科
作者
Jorge Diogo Da Silva,Diana Gonzaga,Ana Barreta,Hildeberto Correia,Ana Maria Fortuna,Ana Rita Soares,Nataliya Tkachenko
出处
期刊:Biomedicines
[MDPI AG]
日期:2022-11-30
卷期号:10 (12): 3078-3078
被引量:1
标识
DOI:10.3390/biomedicines10123078
摘要
The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, including global developmental delay/intellectual disability, behavioral disorders, autism spectrum disorder and variable dysmorphic features. Depending on the genes involved in the microduplication, it can be categorized in two subtypes with different phenotypes. Here, we report a case of a 7-year-old boy with global developmental delay, speech impairment, hypotonia, behavioral conditions (ADHD and ODD), non-specific dysmorphic features and overgrowth. Genetic testing revealed a small 17p13.3 chromosomal duplication, which included the BHLHA9, CRK and YWHAE genes. Additionally, we observed that this was maternally inherited, and that the mother presented with a milder phenotype including mild learning disabilities, speech impairment and non-specific dysmorphic features, which did not significantly affect her. In conclusion, we present a clinical case of a 17p13.3 duplication that further delineates the clinical spectrum of this syndrome, including its intrafamilial/intergenerational variability.
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