19q distal trisomy due to a de novo (19;22)(q13.2;p11) translocation.
A 2 4/12-year-old girl whith a de novo 46,XX,-22 + der(22), t(19;22)(q13.2;p11) karyotype is described. From this and other eight similar cases previously published, a typical phenotype in distal 19q trisomy is concluded.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002903:Chromosomes, Human, 19-20; D005260:Female; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy