The phenotypic and cytogenetic spectrum of partial trisomy 9
dc.contributor.author | Wilson, Golder N. | en_US |
dc.contributor.author | Raj, Anita | en_US |
dc.contributor.author | Baker, Diane D. | en_US |
dc.date.accessioned | 2006-04-28T16:47:34Z | |
dc.date.available | 2006-04-28T16:47:34Z | |
dc.date.issued | 1985-02 | en_US |
dc.identifier.citation | Wilson, Golder N.; Raj, Anita; Baker, Diane (1985)."The phenotypic and cytogenetic spectrum of partial trisomy 9." American Journal of Medical Genetics 20(2): 277-282. <http://hdl.handle.net/2027.42/38237> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38237 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=3976721&dopt=citation | en_US |
dc.description.abstract | A new patient with trisomy for the chromosome segment 9pter→q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra-uterine growth retardation, cleft lip/palate, skeletal anomalies, and heart defects are more common with trisomic segments extending through 9q22-9q32. A graphic method illustrates this progression in the partial trisomy 9 malformation spectrum as the triplicated chromosome region extends from bands 9q21 to 9q32. More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability. | en_US |
dc.format.extent | 355430 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 | The phenotypic and cytogenetic spectrum of partial trisomy 9 | 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 | Section of Pediatric Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan ; Department of Pediatrics, K2015 Holden, University Hospitals, Ann Arbor, MI 48109 | en_US |
dc.contributor.affiliationum | Section of Pediatric Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Section of Pediatric Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.identifier.pmid | 3976721 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38237/1/1320200211_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.1320200211 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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