TY - JOUR
T1 - 17p13.1 microdeletion
T2 - Genetic and clinical findings in a new patient with epilepsy and comparison with literature
AU - Giordano, Lucio
AU - Palestra, Filippo
AU - Giuffrida Maria, Grazia
AU - Molinaro, Anna
AU - Iodice, Alessandro
AU - Bernardini, Laura
AU - La Boria, Paola
AU - Accorsi, Patrizia
AU - Novelli, Antonio
PY - 2014/1
Y1 - 2014/1
N2 - Array comparative genomic hybridization is now a powerful tool to investigate patients with multiple congenital abnormalities and intellectual/motor impairment, and genomic imbalances are identified in a growing number of children with intellectual disability. Deletions in the 17p13.1 region have been reported in patients with dysmorphic features and developmental delay but a consistent phenotype has yet to emerge. Here, we report on the diagnosis of a 17p13.1 microdeletion of 829kb in an 8-year-old girl presenting with profound cognitive disability, psychomotor delay, facial dysmorphisms, and refractory epilepsy. This deletion comprises 44 genes, including 8 OMIM morbid genes. We discuss genetic, clinical, and epileptic features comparing our patient with those previously reported in the literature.
AB - Array comparative genomic hybridization is now a powerful tool to investigate patients with multiple congenital abnormalities and intellectual/motor impairment, and genomic imbalances are identified in a growing number of children with intellectual disability. Deletions in the 17p13.1 region have been reported in patients with dysmorphic features and developmental delay but a consistent phenotype has yet to emerge. Here, we report on the diagnosis of a 17p13.1 microdeletion of 829kb in an 8-year-old girl presenting with profound cognitive disability, psychomotor delay, facial dysmorphisms, and refractory epilepsy. This deletion comprises 44 genes, including 8 OMIM morbid genes. We discuss genetic, clinical, and epileptic features comparing our patient with those previously reported in the literature.
KW - 17p13.1 microdeletion
KW - Array-CGH
KW - Cognitive disability
KW - Gene expression study
KW - Seizures
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U2 - 10.1002/ajmg.a.36225
DO - 10.1002/ajmg.a.36225
M3 - Article
C2 - 24501763
AN - SCOPUS:84890772634
VL - 164
SP - 225
EP - 230
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -