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, Vol. 140, No. 7, 01.04.2006, p. 764-8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -