Partial trisomy 16q resulting from maternal translocation.
A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation is described. Karyotype: 46,XY,--22,der(22),t(16;22)(q21;p12)mat.
D002675:Child, Preschool; D002902:Chromosomes, Human, 16-18; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009122:Muscle Hypertonia / Q000235:genetics; D006848:Testicular Hydrocele / Q000151:congenital; D014178:Translocation, Genetic; D014314:Trisomy