CHARGE association With choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)
dc.contributor.author | Martin, Donna M. | en_US |
dc.contributor.author | Sheldon, Susan | en_US |
dc.contributor.author | Gorski, Jerome L. | en_US |
dc.date.accessioned | 2006-04-19T13:44:29Z | |
dc.date.available | 2006-04-19T13:44:29Z | |
dc.date.issued | 2001-03-01 | en_US |
dc.identifier.citation | Martin, Donna M.; Sheldon, Susan; Gorski, Jerome L. (2001)."CHARGE association With choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)." American Journal of Medical Genetics 99(2): 115-119. <http://hdl.handle.net/2027.42/34659> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/34659 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=11241468&dopt=citation | en_US |
dc.description.abstract | A 3-year-old boy was diagnosed with CHARGE association on the basis of bilateral choanal atresia, absence of the semicircular canals, hypoplastic cochleae, genital hypoplasia, growth and developmental delays, cranial nerve dysfunction, and facial anomalies. Ophthalmologic and cardiac evaluations were normal. He was found to have an apparently balanced t(2;7)(p14;q21.11) chromosomal translocation. Parental karyotypes were normal. Although there is evidence suggesting a genetic basis for CHARGE association, individuals with chromosomal abnormalities and CHARGE are rare. In the described patient, the presence of characteristic CHARGE features suggests that the t(2;7)(p14;q21.11) translocation breakpoints may cause a deletion or disruption of genes within the involved regions that are involved in the generation of the CHARGE association phenotype. © 2001 Wiley-Liss, Inc. | en_US |
dc.format.extent | 187670 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | John Wiley & Sons, Inc. | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | CHARGE association With choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11) | 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.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan ; Division of Pediatric Genetics, Rm 3570 Medical Science Research Bldg II, Box 0688, University of Michigan Medical School, Ann Arbor, MI 48109-0688 | en_US |
dc.identifier.pmid | 11241468 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/34659/1/1126_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1126>3.0.CO;2-8 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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