Trisomy 20p from maternal t(3;20) translocation.
A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband.
D002675:Child, Preschool; D002903:Chromosomes, Human, 19-20; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D010375:Pedigree; D013285:Strabismus / Q000235:genetics; D013771:Tetralogy of Fallot / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy