Abstract
The patient was a 27-year-old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal. His karyotype showed deletion of the short arm of a chromosome 18 as the result of de novo fusion centric translocation between chromosomes 13 and 18 (45,XY, --13, --18, +t(13;18) (13qter yields cen yields 18qter).
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- Bloom S. E., Goodpasture C. An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum Genet. 1976 Oct 28;34(2):199–206. doi: 10.1007/BF00278889. [DOI] [PubMed] [Google Scholar]
- Buffoni L., Tarateta A., Aicardi G., Vianello M. G., Bonioli E. Nanismo ipofisario e sindrome malformativa multipla "tipo Goldenhar" in soggetto con delezione del braccio corto del cromosoma 18. Minerva Pediatr. 1976 Apr 7;28(12-3):716–729. [PubMed] [Google Scholar]
- Faust J., Habedank M., Nieuwenhuijsen C. The 18 p-syndrome. Report of four cases. Eur J Pediatr. 1976 Aug 16;123(1):59–66. doi: 10.1007/BF00497681. [DOI] [PubMed] [Google Scholar]
- Funderburk S. J., Sparkes R. S., Klisak I. 18p--syndrome resulting from 14q/18q 'dicentric' fusion translocation. Hum Genet. 1977 Nov 10;39(2):243–250. doi: 10.1007/BF00287020. [DOI] [PubMed] [Google Scholar]
- Lurie I. W., Lazjuk G. I. Partial monosomies 18. Review of cytogenetical and phenotypical variants. Humangenetik. 1972;15(3):203–222. doi: 10.1007/BF00702354. [DOI] [PubMed] [Google Scholar]
- Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
- Sumner A. T. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res. 1972 Nov;75(1):304–306. doi: 10.1016/0014-4827(72)90558-7. [DOI] [PubMed] [Google Scholar]