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

American Journal of Medical Genetics. Part a
Sabine LangerMichael R Speicher

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.

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Citations

Jun 23, 2011·Epilepsia·Akihisa OkumuraToshiaki Shimizu
Feb 19, 2008·Epilepsy Research·Salvatore GrossoPaolo Balestri
Oct 2, 2012·American Journal of Medical Genetics. Part a·Manjunath NimmakayaluOleg A Shchelochkov
Apr 2, 2010·American Journal of Medical Genetics. Part a·Shinichi TakatsukiToshiyuki Yamamoto
Sep 2, 2014·Congenital Anomalies·Yuhei NishimuraMaria Antonella Costantino
Jan 15, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Ting WangYing Chen
May 16, 2006·American Journal of Medical Genetics. Part a·Sandrine PereiraPierre Szepetowski
Jun 19, 2020·Gene X·Amelia Meecham, John F Marshall

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