A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome
dc.contributor.author | Gorski, Jerome L. | en_US |
dc.contributor.author | Uhlmann, Wendy R. | en_US |
dc.contributor.author | Glover, Thomas W. | en_US |
dc.date.accessioned | 2006-04-28T16:48:19Z | |
dc.date.available | 2006-04-28T16:48:19Z | |
dc.date.issued | 1990-12 | en_US |
dc.identifier.citation | Gorski, Jerome L.; Uhlmann, Wendy R.; Glover, Thomas W. (1990)."A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome." American Journal of Medical Genetics 37(4): 471-474. <http://hdl.handle.net/2027.42/38252> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38252 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2260590&dopt=citation | en_US |
dc.description.abstract | We report on an infant with a multiple congenital anomaly syndrome and severe developmental delay in association with a previously undescribed de novo interstitial deletion of chromosome 14 [karyotype: 46,XY,del(14) (q31q32.3)]. Comparison of the presented patient with previously reported cases of interstitial and terminal chromosome 14q deletions provides a group of patients monosomic for various overlapping portions of the distal half of chromosome 14q and suggests a limited similarity in phenotype among patients with common deleted 14q segments. All patients with distal 14q deletions were developmentally delayed, most were microcephalic and failed to thrive. Most of the patient's anomalies were limited to the face and head. Few major internal congenital anomalies were observed. These comparisons serve to further clarify possible associations of subchromosomal aberrations with specific phenotypes. | en_US |
dc.format.extent | 337323 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 | A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome | 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, Michigan ; Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, Michigan ; Human Genetics, University of Michigan Medical Center, Ann Arbor, Michigan ; Divison of Pediatric Genetics, Department of Pediatrics, D1109 MPB, Box 0718, University of Michigan, Ann Arbor, Michigan 48109 | en_US |
dc.contributor.affiliationum | Division of Pediatric Genetics, University of Michigan Medical Center, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Division of Pediatric Genetics, University of Michigan Medical Center, Ann Arbor, Michigan ; Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, Michigan ; Human Genetics, University of Michigan Medical Center, Ann Arbor, Michigan | en_US |
dc.identifier.pmid | 2260590 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38252/1/1320370409_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.1320370409 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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