神经发育障碍作为与易位t(7;10)(7p22.3;q26.11)相关的主要表型特征。
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11).
作者信息
Mastrangelo Mario, Torres Barbara, De Vita Gloria, Goldoni Marina, De Giorgi Agnese, Bernardini Laura, Leuzzi Vincenzo
机构信息
Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy.
出版信息
J Pediatr Genet. 2020 Aug 20;11(1):68-73. doi: 10.1055/s-0040-1715479. eCollection 2022 Mar.
Abstract
Reported here is a novel patient carrying an unbalanced t (10q26.11-q26.3; 7p22.3) and presenting with a severe intellectual disability with autistic features, abnormalities of muscle tone, and a drug-responsive epilepsy. The prominence of neurological and neurodevelopmental abnormalities in the clinical phenotype highlights a possible pathogenic role for different genes in the involved regions. Hypothetical mechanisms may include a possible gene dosage effect for and/or haploinsufficiency of , and .
摘要
本文报道了一名患有不平衡t(10q26.11-q26.3; 7p22.3)的新型患者，其表现为严重智力残疾并伴有自闭症特征、肌张力异常和药物反应性癫痫。临床表型中神经和神经发育异常的突出表现突出了受累区域不同基因可能的致病作用。推测的机制可能包括 、 和 的可能基因剂量效应和/或单倍体不足。
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