TY - JOUR
T1 - Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy
AU - Tassano, Elisa
AU - De Santis, Lucia Rosaia
AU - Corona, Maria Franca
AU - Parmigiani, Stefano
AU - Zanetti, Dalila
AU - Porta, Simona
AU - Gimelli, Giorgio
AU - Cuoco, Cristina
PY - 2015/2/5
Y1 - 2015/2/5
N2 - 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.
AB - 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.
KW - 16p13.11
KW - 19p13.3
KW - Array-CGH
KW - Deletion
KW - Developmental disorders
KW - Epilepsy
KW - Intellectual disability
KW - Triplication
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U2 - 10.1186/s13039-015-0115-x
DO - 10.1186/s13039-015-0115-x
M3 - Article
AN - SCOPUS:84928670830
VL - 8
JO - Molecular Cytogenetics
JF - Molecular Cytogenetics
SN - 1755-8166
IS - 1
M1 - 9
ER -