A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

Antonietta Coppola; Pasquale Striano; Stefania Gimelli; Clotilde Ciampa; Lia Santulli; Ferdinando Caranci; Orsetta Zuffardi; Giorgio Gimelli; Salvatore Striano; Federico Zara

doi:10.1016/j.braindev.2009.01.003

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

Antonietta Coppola, Pasquale Striano, Stefania Gimelli, Clotilde Ciampa, Lia Santulli, Ferdinando Caranci, Orsetta Zuffardi, Giorgio Gimelli, Salvatore Striano, Federico Zara

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35. Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.

Original language	English
Pages (from-to)	248-252
Number of pages	5
Journal	Brain and Development
Volume	32
Issue number	3
DOIs	https://doi.org/10.1016/j.braindev.2009.01.003
Publication status	Published - Mar 2010

Keywords

Array-CGH
Chromosome abnormalities
Duplication
Epilepsy
Mental retardation

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience

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10.1016/j.braindev.2009.01.003

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A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. / Coppola, Antonietta; Striano, Pasquale; Gimelli, Stefania; Ciampa, Clotilde; Santulli, Lia; Caranci, Ferdinando; Zuffardi, Orsetta; Gimelli, Giorgio; Striano, Salvatore; Zara, Federico.

In: Brain and Development, Vol. 32, No. 3, 03.2010, p. 248-252.

Research output: Contribution to journal › Article › peer-review

Coppola, Antonietta ; Striano, Pasquale ; Gimelli, Stefania ; Ciampa, Clotilde ; Santulli, Lia ; Caranci, Ferdinando ; Zuffardi, Orsetta ; Gimelli, Giorgio ; Striano, Salvatore ; Zara, Federico. / A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. In: Brain and Development. 2010 ; Vol. 32, No. 3. pp. 248-252.

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AU - Ciampa, Clotilde

AU - Santulli, Lia

AU - Caranci, Ferdinando

AU - Zuffardi, Orsetta

AU - Gimelli, Giorgio

AU - Striano, Salvatore

AU - Zara, Federico

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AB - We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35. Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.

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A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

Abstract

Keywords

ASJC Scopus subject areas

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