期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 17, 期 5, 页码 573-581出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.220
关键词
6q deletion; hearing loss; microcephaly; developmental delay; agenesis of the corpus callosum; array-CGH
资金
- Osteogenesis Imperfecta Foundation
- National Urea Cycle Foundation and Children's National Medical Center
Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. We determined the size, extent and genomic content of the deletions using high-density array-comparative genomic hybridization (a-CGH), and found that a common segment spanning 3.52 Mb within the 6q25.2-q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing.
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