A Child With Radius Aplasia, Cleft of Lip and Palate, Microcephaly, and Unusual Chromosome Findings
dc.contributor.author | Butler, Merlin G. | |
dc.contributor.author | Russell, Laura J. | |
dc.contributor.author | Palmer, Catherine G. | |
dc.contributor.author | Bull, Marilyn | |
dc.contributor.author | Hodes, M.E. | |
dc.contributor.department | Medical and Molecular Genetics, School of Medicine | en_US |
dc.date.accessioned | 2019-06-05T19:04:27Z | |
dc.date.available | 2019-06-05T19:04:27Z | |
dc.date.issued | 1982-12 | |
dc.description.abstract | We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft of lip and palate, who was mosaic for a chromosome marker and/or ring of unknown origin. In view of the reported cases of limb deficiency with chromosome abnormalities and the unlikelihood that the patient has a recognized genetic syndrome, the cause of the patient’s syndrome may well be the extra chromosomal material. | en_US |
dc.eprint.version | Author's manuscript | en_US |
dc.identifier.citation | Butler, M. G., Russell, L. J., Palmer, C. G., Bull, M., & Hodes, M. E. (1982). Brief clinical report: a child with radius aplasia, cleft of lip and palate, microcephaly, and unusual chromosome findings. American journal of medical genetics, 13(4), 369–372. doi:10.1002/ajmg.1320130404 | en_US |
dc.identifier.uri | https://hdl.handle.net/1805/19534 | |
dc.language.iso | en_US | en_US |
dc.publisher | Wiley | en_US |
dc.relation.isversionof | 10.1002/ajmg.1320130404 | en_US |
dc.relation.journal | American Journal of Medical Genetics | en_US |
dc.rights | Publisher Policy | en_US |
dc.source | PMC | en_US |
dc.subject | Multiple Congenital Anomalies (MCA) Syndrome | en_US |
dc.subject | Radius Aplasia | en_US |
dc.subject | Microcephaly | en_US |
dc.subject | Cleft Lip and Palate | en_US |
dc.subject | Aneuploidy | en_US |
dc.subject | Ring Chromosome | en_US |
dc.subject | Marker Chromosome | en_US |
dc.title | A Child With Radius Aplasia, Cleft of Lip and Palate, Microcephaly, and Unusual Chromosome Findings | en_US |
dc.type | Article | en_US |