Table 2 Summary of cases with relatively isolated trisomy 16p13.

46, XY, der(1), ins(1;16)(q24;p13.1p13.3)pat

MR, SS, microcephaly, mildly dysmorphic faces, proximally inserted thumbs, flexion contractures of PIP joints, deep-set nails, genu valga

[21]

46, XY, dup(16)(p13.1→pter)

autism, Tourette's syndrome, SS, prominent chin, elongated face, hi-arched palate, small penis/scrotum, poor fine and gross motor movements; slow basal activity on EEG

[22]

46, XY, add(16)(p16.3)

microcephaly; short neck, sparse har, hypertelorism, narrow PF, low set ears; bilateral CL/P; club feet/hands; tracheomalacia; VSD, ASD; hypoplastic aorta

[24]