TY - JOUR
T1 - Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy
AU - Dhamija, Radhika
AU - Breningstall, Galen
AU - Wong-Kisiel, Lily
AU - Dolan, Michelle
AU - Hirsch, Betsy
AU - Wirrell, Elaine
PY - 2011/7
Y1 - 2011/7
N2 - Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders, novel pathologic chromosomal abnormalities are being identified. We report the case of a 9-year-old girl with a history of pervasive developmental disorder, growth delay, mild dysmorphic features, and intractable primary generalized epilepsy with a de novo microdeletion of approximately 0.73-0.94 Mb within chromosome 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in a 30-month-old child with similar phenotype including intractable myoclonic epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered to be idiopathic.
AB - Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders, novel pathologic chromosomal abnormalities are being identified. We report the case of a 9-year-old girl with a history of pervasive developmental disorder, growth delay, mild dysmorphic features, and intractable primary generalized epilepsy with a de novo microdeletion of approximately 0.73-0.94 Mb within chromosome 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in a 30-month-old child with similar phenotype including intractable myoclonic epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered to be idiopathic.
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U2 - 10.1016/j.pediatrneurol.2011.02.002
DO - 10.1016/j.pediatrneurol.2011.02.002
M3 - Article
C2 - 21723464
AN - SCOPUS:79959941911
SN - 0887-8994
VL - 45
SP - 60
EP - 62
JO - Pediatric Neurology
JF - Pediatric Neurology
IS - 1
ER -