18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male
- PMID: 513088
- PMCID: PMC1012619
- DOI: 10.1136/jmg.16.5.399
18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male
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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