一名癫痫女童12q24.21q24.33区域重复，扩展了表型。
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype.
作者信息
Plaza-Benhumea Lautaro, Martin-de Saro Monica D, Sanchez-Acosta Cesar G, Messina-Baas Olga, Cuevas-Covarrubias Sergio A
机构信息
Department of Medical Genetics, Hospital para El Niño IMIEM, Toluca, Mexico.
Department of Medical Genetics, Hospital Materno Infantil ISSEMyM, Toluca, Mexico.
出版信息
Mol Syndromol. 2022 Dec;13(5):409-418. doi: 10.1159/000521640. Epub 2022 Mar 10.
INTRODUCTION
Duplication of 12q is characterized by craniofacial dysmorphia, growth failure, occasional brain malformations, abnormalities of the extremities, skeletal and thoracic malformations, cardiovascular defects, anogenital abnormalities like cryptorchidism, psychomotor delay, and intellectual disability.
CASE PRESENTATION
We describe a female patient with typical manifestations of duplication 12q and epilepsy. She had a normal 46,XX karyotype. The microarray assay exhibited a 19.35-Mb gain at 12q24.21q24.33 due to ins(21;12)(p11.2;q24.21q24.33)mat.
DISCUSSION AND CONCLUSION
The duplicated region in the patient encompasses 219 genes, 24 considered as pathological. No relation between epilepsy and the genes reported as pathological has been reported.
引言
12q重复的特征包括颅面畸形、生长发育迟缓、偶发脑畸形、肢体异常、骨骼和胸廓畸形、心血管缺陷、诸如隐睾症等肛门生殖器异常、精神运动发育迟缓以及智力残疾。
病例报告
我们描述了一名患有12q重复典型表现及癫痫的女性患者。她的核型为正常的46,XX。微阵列分析显示因插入(21;12)(p11.2;q24.21q24.33)母系遗传，在12q24.21q24.33区域有19.35Mb的增益。
讨论与结论
该患者的重复区域包含219个基因，其中24个被认为是病理性的。尚未有癫痫与报道的病理性基因之间存在关联的报告。
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