18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male.
- 1 October 1979
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 16 (5) , 399-402
- https://doi.org/10.1136/jmg.16.5.399
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).Keywords
This publication has 10 references indexed in Scilit:
- Partial Trisomy 17Clinical Genetics, 2008
- 18p- Syndrome resulting from 14q/18q ?dicentric? fusion translocationHuman Genetics, 1977
- An extra small metacentric chromosome identified as a deleted chromosome No. 17Clinical Genetics, 1976
- [Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18].1976
- An improved technique for selective silver staining of nucleolar organizer regions in human chromosomesHuman Genetics, 1976
- The 18 p- syndromeEuropean Journal of Nuclear Medicine and Molecular Imaging, 1976
- Trisomy of the short arm of chromosome 17Human Genetics, 1974
- A simple technique for demonstrating centromeric heterochromatinExperimental Cell Research, 1972
- Partial monosomies 18Human Genetics, 1972
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971