46, XY, der(1), ins(1;16)(q24;p13.1p13.3)pat
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MR, SS, microcephaly, mildly dysmorphic faces, proximally inserted thumbs, flexion contractures of PIP joints, deep-set nails, genu valga
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[21]
|
46, XY, dup(16)(p13.1→pter)
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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
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[22]
|
46, XY, add(16)(p16.3)
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microcephaly; short neck, sparse har, hypertelorism, narrow PF, low set ears; bilateral CL/P; club feet/hands; tracheomalacia; VSD, ASD; hypoplastic aorta
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[24]
|