Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype

Abstract

<b><i>Introduction:</i></b> Duplication of 12q is characterized by craniofacial dysmorphia, growth failure, occasional brain malformations, abnormalities of the extremities, skeletal and thoracic malformations, cardiovascular defects, anogenital abnormalities like cryptorchidism, psychomotor delay, and intellectual disability. <b><i>Case presentation:</i></b> We describe a female patient with typical manifestations of duplication 12q and epilepsy. She had a normal 46,XX karyotype. The microarray assay exhibited a 19.35-Mb gain at 12q24.21q24.33 due to ins(21;12)(p11.2;q24.21q24.33)mat. <b><i>Discussion and Conclusion:</i></b> The duplicated region in the patient encompasses 219 genes, 24 considered as pathological. No relation between epilepsy and the genes reported as pathological has been reported.

The First Korean Case Report of Siblings with 12q24.22q24.33 Duplication

“…We described the first Korean cases of 12q24.22q24.33 duplication. Previously reported clinical features of 12q duplication include craniofacial dysmorphia, growth retardation, brain malformations, abnormalities of the extremities, skeletal and thoracic malformations, cardiovascular defects, anogenital abnormalities, psychomotor delays, and intellectual disabilities [3]. There are several reports of 12q duplication, but pure 12q duplications are rare [3,4].…”

“…Previously reported clinical features of 12q duplication include craniofacial dysmorphia, growth retardation, brain malformations, abnormalities of the extremities, skeletal and thoracic malformations, cardiovascular defects, anogenital abnormalities, psychomotor delays, and intellectual disabilities [3]. There are several reports of 12q duplication, but pure 12q duplications are rare [3,4]. In many cases, 12q duplications result from balanced translocations in the parents, where a segment of chromosome 12 is exchanged with another chromosome.…”

“…The boy had hypertelorism, a broad nasal bridge, low-set and poorly lobulated ears, and a prominent xiphoid process. Since the publication of this first report, only approximately 40 patients with 12q duplication have been documented in other countries [3]; to date, no such cases have been reported in Korea.…”

Off-label use of cannabidiol in genetic epileptic and developmental encephalopathies: A case report

“…This condition is typically associated with severely retarded growth, intellectual disability and distinctive facial features, speech, communication and behavioural problems [6] . Lautaro Plaza-Benhumea and colleagues recently published the first case of a patient with a 12q24.21-12q24.33 duplication and drug-resistance epilepsy, which had been previously rarely described in patients with 12q trisomy [7] .…”