一名患有发育障碍、智力残疾和癫痫的儿童同时存在16号染色体p13.11区域缺失和19号染色体p13.3区域三倍体异常。
Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy.
作者信息
Tassano Elisa, De Santis Lucia Rosaia, Corona Maria Franca, Parmigiani Stefano, Zanetti Dalila, Porta Simona, Gimelli Giorgio, Cuoco Cristina
机构信息
Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.
SSD Genetica Medica, Ospedale S. Andrea, La Spezia, Italy.
出版信息
Mol Cytogenet. 2015 Feb 5;8:9. doi: 10.1186/s13039-015-0115-x. eCollection 2015.
BACKGROUND
Rare copy number variations (CNVs) are today recognized as an important cause of various neurodevelopmental disorders, including mental retardation and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation.
RESULTS
Here we describe a patient with epilepsy, mental retardation, developmental disorders, and dysmorphic features, who inherited a deletion of 16p13.11 and a triplication of 19p13.3 from his father and mother, respectively. The mother presented mild mental retardation and language delay too.
CONCLUSIONS
We discuss the phenotypic consequences of the two CNVs and suggest that their synergistic effect is likely responsible for the complicated clinical features observed in our patient.
背景
如今，罕见拷贝数变异（CNV）被认为是包括智力障碍和癫痫在内的各种神经发育障碍的重要病因。在某些情况下，第二个CNV可能导致更严重的临床表现。
结果
在此，我们描述了一名患有癫痫、智力障碍、发育障碍和畸形特征的患者，他分别从父亲和母亲那里继承了16p13.11缺失和19p13.3三倍体。母亲也有轻度智力障碍和语言发育迟缓。
结论
我们讨论了这两个CNV的表型后果，并认为它们的协同作用可能是导致我们患者出现复杂临床特征的原因。
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