Abstract
A black infant with malformations was found to have trisomy 15q22→qter. The mother had a complex chromosomal rearrangement involving three chromosomes (5, 13, and 15). A comparison with previously published cases of trisomy for distal 15q suggests a pattern of clinical findings including retardation in growth and development, microcephaly, asymmetrical facies, prominent occiput, antimongoloid slant of the palpebral fissures, micrognathia, prominent nose, and congenital heart disease.
Full text
PDF



Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Fujimoto A., Towner J. W., Ebbin A. J., Kahlstrom E. J., Wilson M. G. Inherited partial duplication of chromosome No. 15. J Med Genet. 1974 Sep;11(3):287–291. doi: 10.1136/jmg.11.3.287. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pai G. S., Thomas G. H., Mahoney W., Migeon B. R. Complex chromosome rearrangements. Report of a new case and literature review. Clin Genet. 1980 Dec;18(6):436–444. doi: 10.1111/j.1399-0004.1980.tb01790.x. [DOI] [PubMed] [Google Scholar]
- Turleau C., de Grouchy J., Chavin-Colin F., Roubin M. Trisomie 15q distale. Ann Genet. 1977 Sep;20(3):214–216. [PubMed] [Google Scholar]
- Tzancheva M., Krachounova M., Damjanova Z. Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21). Hum Genet. 1981;56(3):275–277. doi: 10.1007/BF00274678. [DOI] [PubMed] [Google Scholar]
- Zabel B., Baumann W. Trisomie partielle pour la partie distale du bras long du chromosome 15 par translocation X/15 maternelle. Ann Genet. 1977 Dec;20(4):285–289. [PubMed] [Google Scholar]