Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype
Por:
Plaza-Benhumea, Lautaro, Martin-de Saro, Monica D., Sanchez-Acosta, Cesar G., Messina-Baas, Olga, Cuevas-Covarrubias, Sergio A.
Publicada:
1 dic 2022
Ahead of Print:
1 mar 2022
Resumen:
Introduction: 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. Case presentation: 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. Discussion and Conclusion: 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.
Filiaciones:
Plaza-Benhumea, Lautaro:
Hosp El Nino IMIEM, Dept Med Genet, Toluca, Mexico
Martin-de Saro, Monica D.:
Hosp Materno Infantil ISSEMyM, Dept Med Genet, Toluca, Mexico
Sanchez-Acosta, Cesar G.:
Hosp Mujer IMIEM, Dept Neurol, Toluca, Mexico
Messina-Baas, Olga:
Natl Autonomous Univ Mex, Hosp Gen Mex, Mexico City, Mexico
Cuevas-Covarrubias, Sergio A.:
Natl Autonomous Univ Mex, Hosp Gen Mex, Mexico City, Mexico
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