Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion
dc.contributor.author | Nelson, Marc | en_US |
dc.contributor.author | Quinonez, Shane | en_US |
dc.contributor.author | Ackley, Todd | en_US |
dc.contributor.author | Iyer, Ramaswamy K. | en_US |
dc.contributor.author | Innis, Jeffrey W. | en_US |
dc.date.accessioned | 2011-03-10T16:03:33Z | |
dc.date.accessioned | 2011-03-10T16:03:33Z | |
dc.date.available | 2012-04-30T18:27:22Z | en_US |
dc.date.issued | 2011-03 | en_US |
dc.identifier.citation | Nelson, Marc; Quinonez, Shane; Ackley, Todd; Iyer, Ram K.; Innis, Jeffrey W. (2011). "Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion." American Journal of Medical Genetics Part A 155(3): 612-617. <http://hdl.handle.net/2027.42/83208> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/83208 | |
dc.description.abstract | We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT-proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. Using high resolution chromosomal microarray analysis, we identified a de novo deletion of 555 kb on chromosome 16p13.3, 444 kb telomeric to the CREBBP gene and 623 kb centromeric of PKD1. Review of the literature revealed numerous reports of individuals with deletions involving adjacent regions including CREBBP, but only one overlapping with this isolated region of 16p13.3. Haploinsufficiency for one or more of the 25 candidate genes in the deleted genomic region may be responsible for these clinical features. No copy number variants (CNVs) span the entire region, but several small CNVs within the 555 kb genomic region reduce the likelihood for effects due to haploinsufficiency to 18 genes. © 2011 Wiley-Liss, Inc. | 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 | Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion | 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 | Department of Otolaryngology, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan ; Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan ; Department of Pediatrics, Division of Genetics, D5240 MPB, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-5718. | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/83208/1/33808_ftp.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.33808 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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