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

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. -->

ISSN:	1552-4833 1552-4825
DOI:	10.1002/ajmg.a.31141
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db62881e1fefbbab703c0f9d5402d806 https://doi.org/10.1002/ajmg.a.31141
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....db62881e1fefbbab703c0f9d5402d806
Autor:	Sabine Langer, Hans-Jürgen Leifheit, Maja Hempel, Janine Wagenstaller, Gaby Lederer, Jochen B. Geigl, Cornelia Daumer-Haas, Michael R. Speicher
Rok vydání:	2006
Předmět:	Chromosomal translocation Biology Genome Fatal Outcome Gene mapping Genetics medicine Humans Abnormalities Multiple Genetics (clinical) Epilepsy medicine.diagnostic_test Genome Human Nucleic Acid Hybridization Ear Karyotype Chromosome Banding Child Preschool Chromosomes Human Pair 2 Karyotyping Chromosomal region Neuron differentiation Female Chromosome Deletion Haploinsufficiency Fluorescence in situ hybridization
Zdroj:	American Journal of Medical Genetics Part A. :764-768
ISSN:	1552-4833 1552-4825
DOI:	10.1002/ajmg.a.31141
Popis:	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.
Databáze:	OpenAIRE
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