Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
dc.contributor.author | Muller, Eric A. | en_US |
dc.contributor.author | Aradhya, Swaroop | en_US |
dc.contributor.author | Atkin, Joan F. | en_US |
dc.contributor.author | Carmany, Erin P. | en_US |
dc.contributor.author | Elliott, Alison M. | en_US |
dc.contributor.author | Chudley, Albert E. | en_US |
dc.contributor.author | Clark, Robin D. | en_US |
dc.contributor.author | Everman, David B. | en_US |
dc.contributor.author | Garner, Shannon | en_US |
dc.contributor.author | Hall, Bryan D. | en_US |
dc.contributor.author | Herman, Gail E. | en_US |
dc.contributor.author | Kivuva, Emma | en_US |
dc.contributor.author | Ramanathan, Subhadra | en_US |
dc.contributor.author | Stevenson, David A. | en_US |
dc.contributor.author | Stockton, David W. | en_US |
dc.contributor.author | Hudgins, Louanne | en_US |
dc.date.accessioned | 2012-03-16T16:01:17Z | |
dc.date.available | 2013-04-01T14:17:26Z | en_US |
dc.date.issued | 2012-02 | en_US |
dc.identifier.citation | Muller, Eric A.; Aradhya, Swaroop; Atkin, Joan F.; Carmany, Erin P.; Elliott, Alison M.; Chudley, Albert E.; Clark, Robin D.; Everman, David B.; Garner, Shannon; Hall, Bryan D.; Herman, Gail E.; Kivuva, Emma; Ramanathan, Subhadra; Stevenson, David A.; Stockton, David W.; Hudgins, Louanne (2012). "Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay ." American Journal of Medical Genetics Part A 158A(2): 391-399. <http://hdl.handle.net/2027.42/90383> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/90383 | |
dc.description.abstract | Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well‐described rare autosomal dominant condition due to haploinsufficiency of PTCH1 . With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 deletions that include PTCH1 . While 7 of the 10 patients (7 females, 3 males) did not meet strict clinical criteria for BCNS at the time of molecular diagnosis, almost all of the patients were too young to exhibit many of the diagnostic features. A number of the patients exhibited metopic craniosynostosis, severe obstructive hydrocephalus, and macrosomia, which are not typically observed in BCNS. All individuals older than a few months of age also had developmental delays and/or intellectual disability. Only facial features typical of BCNS, except in those with prominent midforeheads secondary to metopic craniosynostosis, were shared among the 10 patients. The deletions in these individuals ranged from 352 kb to 20.5 Mb in size, the largest spanning 9q21.33 through 9q31.2. There was significant overlap of the deleted segments among most of the patients. The smallest common regions shared among the deletions were identified in order to localize putative candidate genes that are potentially responsible for each of the non‐BCNS features. These were a 929 kb region for metopic craniosynostosis, a 1.08 Mb region for obstructive hydrocephalus, and a 1.84 Mb region for macrosomia. Additional studies are needed to further characterize the candidate genes within these regions. © 2011 Wiley Periodicals, Inc. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Chromosomal Deletion | en_US |
dc.subject.other | Metopic Craniosynostosis | en_US |
dc.subject.other | PTCH1 | en_US |
dc.subject.other | 9q22 | en_US |
dc.subject.other | Gorlin Syndrome | en_US |
dc.subject.other | Basal Cell Nevus Syndrome | en_US |
dc.subject.other | Basal Cell Carcinoma Syndrome | en_US |
dc.title | Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay | 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.affiliationother | University of Kentucky, Lexington, Kentucky | en_US |
dc.contributor.affiliationother | Stanford University, Stanford, California | en_US |
dc.contributor.affiliationother | GeneDx, Gaithersburg, Maryland | en_US |
dc.contributor.affiliationother | Nationwide Children's Hospital, Columbus, Ohio | en_US |
dc.contributor.affiliationother | Wayne State University and Children's Hospital of Michigan, Detroit, Missouri | en_US |
dc.contributor.affiliationother | Children's Hospital, Health Sciences Centre, University of Manitoba, Winnipeg, Manitoba, Canada | en_US |
dc.contributor.affiliationother | Loma Linda University Health Center, Loma Linda, California | en_US |
dc.contributor.affiliationother | Greenwood Genetic Center, Greenwood, South Carolina | en_US |
dc.contributor.affiliationother | Royal Devon and Exeter Hospital, Exeter, UK | en_US |
dc.contributor.affiliationother | University of Utah School of Medicine, Salt Lake City, Utah | en_US |
dc.contributor.affiliationother | Stanford University Division of Medical Genetics, 300 Pasteur Drive, H315, Stanford, CA 94305‐5208. | en_US |
dc.identifier.pmid | 22190277 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/90383/1/34216_ftp.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.34216 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
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dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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