Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)
dc.contributor.author | Gorski, Jerome L. | en_US |
dc.contributor.author | Cox, Beth A. | en_US |
dc.contributor.author | Kyine, Mi | en_US |
dc.contributor.author | Uhlmann, Wendy R. | en_US |
dc.contributor.author | Glover, Thomas W. | en_US |
dc.date.accessioned | 2006-04-28T16:48:03Z | |
dc.date.available | 2006-04-28T16:48:03Z | |
dc.date.issued | 1989-03 | en_US |
dc.identifier.citation | Gorski, Jerome L.; Cox, Beth A.; Kyine, Mi; Uhlmann, Wendy; Glover, Thomas W. (1989)."Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)." American Journal of Medical Genetics 32(3): 350-352. <http://hdl.handle.net/2027.42/38247> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38247 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2729355&dopt=citation | en_US |
dc.description.abstract | We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor anomalies in this patient suggests that indications for obtaining a chromosome analysis from neurologically impaired individuals need to be reevaluated. | en_US |
dc.format.extent | 354188 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 | Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37) | 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 | Division of Pediatric Genetics, University of Michigan Medical Center, Ann Arbor ; Department of Pediatrics, University of Michigan Medical Center, Ann Arbor ; Department of Human Genetics, University of Michigan Medical Center, Ann Arbor ; Division of Pediatric Genetics, Department of Pediatrics, D1109 MPB, Box 0718, University of Michigan, Ann Arbor, MI 48109 | en_US |
dc.contributor.affiliationum | Division of Pediatric Genetics, University of Michigan Medical Center, Ann Arbor | en_US |
dc.contributor.affiliationum | Division of Pediatric Genetics, University of Michigan Medical Center, Ann Arbor | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical Center, Ann Arbor | en_US |
dc.contributor.affiliationum | Division of Pediatric Genetics, University of Michigan Medical Center, Ann Arbor ; Department of Pediatrics, University of Michigan Medical Center, Ann Arbor ; Department of Human Genetics, University of Michigan Medical Center, Ann Arbor | en_US |
dc.identifier.pmid | 2729355 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38247/1/1320320315_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.1320320315 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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