Abstract
We describe a 27 month old female child with partial monosomy for the short arm of chromosome 12: 46,XX,del(12)(p13.1----p13.3). She differs from the eight cases described by others, in that she is less severely affected. Her main clinical features are developmental delay, protruding tongue, strabismus, slightly unusual facies, slight micrognathia, and speech delay.
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.
- Kivlin J. D., Fineman R. M., Williams M. S. Phenotypic variation in the del(12p) syndrome. Am J Med Genet. 1985 Dec;22(4):769–779. doi: 10.1002/ajmg.1320220412. [DOI] [PubMed] [Google Scholar]
- Magenis E., Brown M. G., Chamberlin J., Donlon T., Hepburn D., Lamvik N., Lovrien E., Yoshitomi M. Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB. Am J Med Genet. 1981;9(2):95–103. doi: 10.1002/ajmg.1320090203. [DOI] [PubMed] [Google Scholar]
- Mayeda K., Weiss L., Lindahl R., Dully M. Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Am J Hum Genet. 1974 Jan;26(1):59–64. [PMC free article] [PubMed] [Google Scholar]
- Tenconi R., Baccichetti C., Anglani F., Pellergrino P. A., Kaplan J. C., Junien C. Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case. Ann Genet. 1975 Jun;18(2):95–98. [PubMed] [Google Scholar]