Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).
A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002903:Chromosomes, Human, 19-20; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014314:Trisomy