A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies How to cite this article: Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. 2009. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet Part A 149A:396–402.
dc.contributor.author | Jensen, Daniel R. | en_US |
dc.contributor.author | Martin, Donna M. | en_US |
dc.contributor.author | Gebarski, Stephen S. | en_US |
dc.contributor.author | Sahoo, Trilochan | en_US |
dc.contributor.author | Brundage, Ellen K. | en_US |
dc.contributor.author | Chinault, A. Craig | en_US |
dc.contributor.author | Otto, Edgar A. | en_US |
dc.contributor.author | Chaki, Moumita | en_US |
dc.contributor.author | Hildebrandt, Friedhelm | en_US |
dc.contributor.author | Cheung, Sau Wai | en_US |
dc.contributor.author | Lesperance, Marci M. | en_US |
dc.date.accessioned | 2009-03-03T20:10:40Z | |
dc.date.available | 2010-04-14T17:40:06Z | en_US |
dc.date.issued | 2009-03 | en_US |
dc.identifier.citation | Jensen, Daniel R.; Martin, Donna M.; Gebarski, Stephen; Sahoo, Trilochan; Brundage, Ellen K.; Chinault, A. Craig; Otto, Edgar A.; Chaki, Moumita; Hildebrandt, Friedhelm; Cheung, Sau Wai; Lesperance, Marci M. (2009). "A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies How to cite this article: Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. 2009. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet Part A 149A:396–402. ." American Journal of Medical Genetics Part A 149A(3): 396-402. <http://hdl.handle.net/2027.42/61892> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/61892 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=19215039&dopt=citation | en_US |
dc.description.abstract | We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1 , SIX1 , and SIX5 , genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis of the excised cervical sinus tracts was revised on re-examination to heterotopic salivary gland tissue. Using high resolution chromosomal microarray analysis, we identified a novel 2.52 Mb deletion at 19p13.12, which was confirmed by fluorescent in situ hybridization and demonstrated to be a de novo mutation by testing of the parents. Overall, deletions of chromosome 19p13 are rare. © 2009 Wiley-Liss, Inc. | en_US |
dc.format.extent | 290013 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies How to cite this article: Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. 2009. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet Part A 149A:396–402. | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan Health System, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan Health System, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Division of Neuroradiology, Department of Radiology, University of Michigan Health System, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan Health System, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan Health System, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan Health System, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan Health System, Ann Arbor, Michigan ; Howard Hughes Medical Institute, University of Michigan Health System, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan ; Division of Pediatric Otolaryngology, F6866 Mott 1500 East Medical Center Drive, Ann Arbor, MI 48109-5241. | en_US |
dc.contributor.affiliationother | Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas | en_US |
dc.contributor.affiliationother | Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas | en_US |
dc.contributor.affiliationother | Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas | en_US |
dc.contributor.affiliationother | Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas | en_US |
dc.identifier.pmid | 19215039 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/61892/1/32691_ftp.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.32691 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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