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

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

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 journal › Article › peer-review

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.

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
Original language	Italian
Pages (from-to)	159-160
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	129-130
Publication status	Published - 2005

ASJC Scopus subject areas

Clinical Neurology

Cite this

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

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",

author = "A. Coppola and P. Striano and L. Castiglia and O. Galesi and S. Pelligra and M. Elia and S. Striano",

year = "2005",

language = "Italian",

pages = "159--160",

journal = "Bollettino - Lega Italiana contro l'Epilessia",

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TY - JOUR

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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M3 - Articolo

AN - SCOPUS:33645231819

SN - 0394-560X

SP - 159

EP - 160

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

IS - 129-130

ER -

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

Abstract

ASJC Scopus subject areas

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