Two cases of 16q12.1q21 deletions and refinement of the critical region |
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| Institution: | 1. Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada;2. Department of Pathology and Molecular Medicine and Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada;1. Neurovascular Surgery Program, Section of Neurosurgery, The University of Chicago Medicine, Chicago, Illinois, USA;2. Department of Neurology, The University of Chicago Medicine, Chicago, Illinois, USA;3. Department of Pediatrics, University of California, Los Angeles, Torrance, California, USA;4. Department of Molecular Genetics and Microbiology, Duke University, Durham, North Carolina, USA;5. Center for Science, Math and Technology Education, North Carolina Central University, Durham, North Carolina, USA;6. Angioma Alliance, Norfolk, Virginia, USA;7. Department of Neurosurgery and Neurobiology, Yale University, New Haven, Connecticut, USA;8. Department of Pathology, Yale University, New Haven, Connecticut, USA;9. Department of Neurosurgery, School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil |
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| Abstract: | Interstitial deletions of 16q chromosome including 16q12.1q21 region are very rare, with only three cases reported to date. Main clinical features include dysmorphisms, short stature, microcephaly, eye abnormalities, epilepsy, development delay, intellectual disability, and autism spectrum disorder.We report two independent subjects with 16q12.1q21 deletion syndrome presenting with dysmorphic facial features, developmental delay, strabismus, and aggressive behavior. A minimal region of overlap spanning 1.7 Mb on chromosome 16, including IRX5, GNAO1, and NUDT21 genes was shared among these two cases and those previously reported. This minimal region of overlap suggests the potential pathogenic role of these genes, previously implicated in diseases of the central nervous system. |
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| Keywords: | 16q interstitial deletion 16q12 1q21 Metallothionein |
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