Further delineation of the dup(3q) syndrome
dc.contributor.author | Wilson, Golder N. | en_US |
dc.contributor.author | Dasouki, Majed | en_US |
dc.contributor.author | Barr, Mason | en_US |
dc.date.accessioned | 2006-04-28T16:47:40Z | |
dc.date.available | 2006-04-28T16:47:40Z | |
dc.date.issued | 1985-09 | en_US |
dc.identifier.citation | Wilson, Golder N.; Dasouki, Majed; Barr, Mason (1985)."Further delineation of the dup(3q) syndrome." American Journal of Medical Genetics 22(1): 117-123. <http://hdl.handle.net/2027.42/38239> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38239 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=4050847&dopt=citation | en_US |
dc.description.abstract | Three patients with duplication of 3q regions ranging from 3q25→qter to the entire long arm provide additional documentation of the dup(3q) malformation syndrome. Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and distinct from that of the Brachmann-de Lange syndrome. Other characteristic anomalies include congenital heart anomalies involving primarily septal defects, hand malformations including simian creases, abnormal dermatoglyphics, clinodactyly or camptodactyly, omphalocele, skeletal anomalies, and genitourinary malformations. Severe mental and growth retardation are common in those patients (64%) who survive the first year. Chromosome study of relatives is extremely important for counseling because only 10 of 40 cases represented de novo duplications. | en_US |
dc.format.extent | 513822 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 | Further delineation of the dup(3q) 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 | Section of Pediatric Genetics, Department of Pediatrics, University of Michigan, Ann Arbor ; Department of Pediatrics, D1225 Medical Professional Building, University Hospitals, Ann Arbor, MI 48109 | en_US |
dc.contributor.affiliationum | Section of Pediatric Genetics, Department of Pediatrics, University of Michigan, Ann Arbor | en_US |
dc.contributor.affiliationum | Section of Pediatric Genetics, Department of Pediatrics, University of Michigan, Ann Arbor | en_US |
dc.identifier.pmid | 4050847 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38239/1/1320220113_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.1320220113 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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