Mosaic trisomy r(14) associated with epilepsy and mental retardation

Meropi Tzoufi; Chrisanthi Kanioglou; Aggeliki Dasoula; Ioannis Asproudis; Agathoklis Tsatsoulis; Carolina Sismani; Philippos C. Patsalis; Ioannis Georgiou; Maria Syrrou

doi:10.1177/0883073807304196

Mosaic trisomy r(14) associated with epilepsy and mental retardation

Meropi Tzoufi
, Chrisanthi Kanioglou
, Aggeliki Dasoula
, Ioannis Asproudis
, Agathoklis Tsatsoulis
, Carolina Sismani
, Philippos C. Patsalis
, Ioannis Georgiou
, Maria Syrrou

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

Abstract

We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.

Original language	English
Pages (from-to)	869-873
Number of pages	5
Journal	Journal of Child Neurology
Volume	22
Issue number	7
DOIs	https://doi.org/10.1177/0883073807304196
Publication status	Published - Jul 2007
Externally published	Yes

Keywords

Diabetes mellitus type 2
Epilepsy
Mental retardation
r(14) chromosome

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1177/0883073807304196

Cite this

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title = "Mosaic trisomy r(14) associated with epilepsy and mental retardation",

abstract = "We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.",

keywords = "Diabetes mellitus type 2, Epilepsy, Mental retardation, r(14) chromosome",

author = "Meropi Tzoufi and Chrisanthi Kanioglou and Aggeliki Dasoula and Ioannis Asproudis and Agathoklis Tsatsoulis and Carolina Sismani and Patsalis, \{Philippos C.\} and Ioannis Georgiou and Maria Syrrou",

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AU - Tzoufi, Meropi

AU - Kanioglou, Chrisanthi

AU - Dasoula, Aggeliki

AU - Asproudis, Ioannis

AU - Tsatsoulis, Agathoklis

AU - Sismani, Carolina

AU - Patsalis, Philippos C.

AU - Georgiou, Ioannis

AU - Syrrou, Maria

PY - 2007/7

Y1 - 2007/7

N2 - We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.

AB - We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.

KW - Diabetes mellitus type 2

KW - Epilepsy

KW - Mental retardation

KW - r(14) chromosome

UR - https://www.scopus.com/pages/publications/34547919969

U2 - 10.1177/0883073807304196

DO - 10.1177/0883073807304196

M3 - Article

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AN - SCOPUS:34547919969

SN - 0883-0738

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JO - Journal of Child Neurology

JF - Journal of Child Neurology

IS - 7

ER -

Mosaic trisomy r(14) associated with epilepsy and mental retardation

Abstract

Keywords

UN SDGs

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