Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy

Molecular Cytogenetics

Cristina Cuoco³  Giorgio Gimelli³  Simona Porta³  Dalila Zanetti⁴  Stefano Parmigiani¹  Maria Franca Corona²  Lucia Rosaia De Santis⁴  Elisa Tassano³ 

[1] SC Pediatria e Neonatologia, Ospedale S. Andrea, La Spezia, Italy;SS Neonatologia Fisiologica, Ospedale S. Andrea, La Spezia, Italy;Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, Genoa, 16147, Italy;SSD Genetica Medica, Ospedale S. Andrea, La Spezia, Italy

关键词: Epilepsy;    Intellectual disability;    Developmental disorders;    Array-CGH;    19p13.3;    Triplication;    16p13.11;    Deletion;   

Others  :  1132186
DOI  :  10.1186/s13039-015-0115-x

 received in 2014-09-02, accepted in 2015-01-22,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Tassano et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

Figure 2.

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