Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion
dc.contributor.author | Martin, Donna M. | en_US |
dc.contributor.author | Mindell, Margaret H. | en_US |
dc.contributor.author | Kwierant, Christine A. | en_US |
dc.contributor.author | Glover, Thomas W. | en_US |
dc.contributor.author | Gorski, Jerome L. | en_US |
dc.date.accessioned | 2006-04-19T13:44:48Z | |
dc.date.available | 2006-04-19T13:44:48Z | |
dc.date.issued | 2003-01-30 | en_US |
dc.identifier.citation | Martin, Donna M.; Mindell, Margaret H.; Kwierant, Christine A.; Glover, Thomas W.; Gorski, Jerome L. (2003)."Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion." American Journal of Medical Genetics 116A(3): 268-271. <http://hdl.handle.net/2027.42/34666> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/34666 | |
dc.description.abstract | Complex congenital heart defects (CHD) are associated with a variety of single gene abnormalities and chromosomal rearrangements. Of the various forms of CHD, aortic arch interruption, a conotruncal heart defect, is relatively uncommon. Here we report a male neonate with aortic arch interruption type B, secundum atrial septal defect, perimembranous ventricular septal defect, patent ductus arteriosus, aortic and subaortic stenosis, and trisomy 5q31.1q35.1 resulting from a maternal balanced insertion (20;5). Chromosomal deletions, including deletion 22q11, have been reported with interrupted aortic arch (IAA); however, to our knowledge this is the first report of a trisomy of distal chromosome 5q associated with aortic arch interruption. Here we compare this child's features to other cases of trisomy 5q31.1q35.1, and review other causes of IAA. We conclude that gene dosage in this chromosomal region likely influences aortic arch development. © 2003 Wiley-Liss, Inc. | en_US |
dc.format.extent | 71709 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
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 | Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion | 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 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 | 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.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/34666/1/10064_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.a.10064 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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