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Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy

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Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. / Langer, Sabine; Geigl, Jochen B; Wagenstaller, Janine; Lederer, Gaby; Hempel, Maja; Daumer-Haas, Cornelia; Leifheit, Hans-Jürgen; Speicher, Michael R.

in: AM J MED GENET A, Jahrgang 140, Nr. 7, 01.04.2006, S. 764-8.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Langer, S, Geigl, JB, Wagenstaller, J, Lederer, G, Hempel, M, Daumer-Haas, C, Leifheit, H-J & Speicher, MR 2006, 'Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy', AM J MED GENET A, Jg. 140, Nr. 7, S. 764-8. https://doi.org/10.1002/ajmg.a.31141

APA

Langer, S., Geigl, J. B., Wagenstaller, J., Lederer, G., Hempel, M., Daumer-Haas, C., Leifheit, H-J., & Speicher, M. R. (2006). Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. AM J MED GENET A, 140(7), 764-8. https://doi.org/10.1002/ajmg.a.31141

Vancouver

Langer S, Geigl JB, Wagenstaller J, Lederer G, Hempel M, Daumer-Haas C et al. Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. AM J MED GENET A. 2006 Apr 1;140(7):764-8. https://doi.org/10.1002/ajmg.a.31141

Bibtex

@article{ef2af3752e3948c29fd6cad9aad4b3f2,
title = "Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy",
abstract = "In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro-array technologies now allow the rapid fine mapping of small genomic imbalances. Here we used various technologies to characterize a de novo translocation t(2;15) in a girl with dysmorphic features, severe developmental delay and frequent seizures. Multiplex-FISH (M-FISH) excluded the involvement of other chromosomes than chromosomes 2 and 15. We used an oligonucleotide array containing more than 10.000 SNPs, that is, the GeneChip Mapping 10K 2.0 SNP Affymetrix array, and readily fine-mapped a deletion in chromosomal region 2q24.1 --> 2q31.1. The extent of this deletion was verified with multicolor BAC-clone hybridizations. The deletion has a size of about 13 Mb and is within a gene rich region containing about 76 genes. Interestingly, several of these genes are ion channel genes or genes involved in neuron differentiation, so that the frequently occurring seizures are probably due to loss or haploinsufficiency of one or more of these genes.",
keywords = "Abnormalities, Multiple, Child, Preschool, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 2, Ear, Epilepsy, Fatal Outcome, Female, Genome, Human, Humans, Karyotyping, Nucleic Acid Hybridization",
author = "Sabine Langer and Geigl, {Jochen B} and Janine Wagenstaller and Gaby Lederer and Maja Hempel and Cornelia Daumer-Haas and Hans-J{\"u}rgen Leifheit and Speicher, {Michael R}",
note = "Copyright 2006 Wiley-Liss, Inc.",
year = "2006",
month = apr,
day = "1",
doi = "10.1002/ajmg.a.31141",
language = "English",
volume = "140",
pages = "764--8",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "7",

}

RIS

TY - JOUR

T1 - Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy

AU - Langer, Sabine

AU - Geigl, Jochen B

AU - Wagenstaller, Janine

AU - Lederer, Gaby

AU - Hempel, Maja

AU - Daumer-Haas, Cornelia

AU - Leifheit, Hans-Jürgen

AU - Speicher, Michael R

N1 - Copyright 2006 Wiley-Liss, Inc.

PY - 2006/4/1

Y1 - 2006/4/1

N2 - In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro-array technologies now allow the rapid fine mapping of small genomic imbalances. Here we used various technologies to characterize a de novo translocation t(2;15) in a girl with dysmorphic features, severe developmental delay and frequent seizures. Multiplex-FISH (M-FISH) excluded the involvement of other chromosomes than chromosomes 2 and 15. We used an oligonucleotide array containing more than 10.000 SNPs, that is, the GeneChip Mapping 10K 2.0 SNP Affymetrix array, and readily fine-mapped a deletion in chromosomal region 2q24.1 --> 2q31.1. The extent of this deletion was verified with multicolor BAC-clone hybridizations. The deletion has a size of about 13 Mb and is within a gene rich region containing about 76 genes. Interestingly, several of these genes are ion channel genes or genes involved in neuron differentiation, so that the frequently occurring seizures are probably due to loss or haploinsufficiency of one or more of these genes.

AB - In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro-array technologies now allow the rapid fine mapping of small genomic imbalances. Here we used various technologies to characterize a de novo translocation t(2;15) in a girl with dysmorphic features, severe developmental delay and frequent seizures. Multiplex-FISH (M-FISH) excluded the involvement of other chromosomes than chromosomes 2 and 15. We used an oligonucleotide array containing more than 10.000 SNPs, that is, the GeneChip Mapping 10K 2.0 SNP Affymetrix array, and readily fine-mapped a deletion in chromosomal region 2q24.1 --> 2q31.1. The extent of this deletion was verified with multicolor BAC-clone hybridizations. The deletion has a size of about 13 Mb and is within a gene rich region containing about 76 genes. Interestingly, several of these genes are ion channel genes or genes involved in neuron differentiation, so that the frequently occurring seizures are probably due to loss or haploinsufficiency of one or more of these genes.

KW - Abnormalities, Multiple

KW - Child, Preschool

KW - Chromosome Banding

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 2

KW - Ear

KW - Epilepsy

KW - Fatal Outcome

KW - Female

KW - Genome, Human

KW - Humans

KW - Karyotyping

KW - Nucleic Acid Hybridization

U2 - 10.1002/ajmg.a.31141

DO - 10.1002/ajmg.a.31141

M3 - SCORING: Journal article

C2 - 16523518

VL - 140

SP - 764

EP - 768

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 7

ER -