Epilessia parziale, ritardo mentale e tratti dismorfici in una translocazione de novo t(4;9)(q34;p22) con interruzione del gene MLLT3

Translated title of the contribution: Partial epilepsy, mental retardation and multiple malformative features. One patient with a de novo balanced traslocation (4;9) determining interruption of the MLLT3 gene

A. Coppola, P. Striano, L. Castiglia, O. Galesi, S. Pelligra, M. Elia, S. Striano

Research output: Contribution to journalArticle

Abstract

We report the case of a 10-year-old girl affected by partial epilepsy, mental retardation, and multiple malformations who had a de novo apparently balanced translocation of chromosomes 4 and 9. This rearrangement disrupted the myeloid/lymphoid or mixed-lineage leukemia gene (MLLT3), which is located on the BAC RP11-73E6 region of chromosome 9p22. We suggest that screening for apparently balanced chromosome rearrangements should be conducted in patients presenting with dysmorphic features, developmental delay and epilepsy in order to learn more about genotype/phenotype correlations in epilepsy.

Original languageItalian
Pages (from-to)159-160
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number129-130
Publication statusPublished - 2005

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Partial Epilepsy
Intellectual Disability
Epilepsy
Chromosomes
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 4
Genetic Association Studies
Genes
Leukemia

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

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abstract = "We report the case of a 10-year-old girl affected by partial epilepsy, mental retardation, and multiple malformations who had a de novo apparently balanced translocation of chromosomes 4 and 9. This rearrangement disrupted the myeloid/lymphoid or mixed-lineage leukemia gene (MLLT3), which is located on the BAC RP11-73E6 region of chromosome 9p22. We suggest that screening for apparently balanced chromosome rearrangements should be conducted in patients presenting with dysmorphic features, developmental delay and epilepsy in order to learn more about genotype/phenotype correlations in epilepsy.",
keywords = "Chromosome 4, Chromosome 9, De novo translocation, Genetics, Partial epilepsy",
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T1 - Epilessia parziale, ritardo mentale e tratti dismorfici in una translocazione de novo t(4;9)(q34;p22) con interruzione del gene MLLT3

AU - Coppola, A.

AU - Striano, P.

AU - Castiglia, L.

AU - Galesi, O.

AU - Pelligra, S.

AU - Elia, M.

AU - Striano, S.

PY - 2005

Y1 - 2005

N2 - We report the case of a 10-year-old girl affected by partial epilepsy, mental retardation, and multiple malformations who had a de novo apparently balanced translocation of chromosomes 4 and 9. This rearrangement disrupted the myeloid/lymphoid or mixed-lineage leukemia gene (MLLT3), which is located on the BAC RP11-73E6 region of chromosome 9p22. We suggest that screening for apparently balanced chromosome rearrangements should be conducted in patients presenting with dysmorphic features, developmental delay and epilepsy in order to learn more about genotype/phenotype correlations in epilepsy.

AB - We report the case of a 10-year-old girl affected by partial epilepsy, mental retardation, and multiple malformations who had a de novo apparently balanced translocation of chromosomes 4 and 9. This rearrangement disrupted the myeloid/lymphoid or mixed-lineage leukemia gene (MLLT3), which is located on the BAC RP11-73E6 region of chromosome 9p22. We suggest that screening for apparently balanced chromosome rearrangements should be conducted in patients presenting with dysmorphic features, developmental delay and epilepsy in order to learn more about genotype/phenotype correlations in epilepsy.

KW - Chromosome 4

KW - Chromosome 9

KW - De novo translocation

KW - Genetics

KW - Partial epilepsy

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