Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

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

Chromosomal Abnormality	Clinical Features	Reference
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]

Abbreviations: ASD = atrial-septal defect; CL/P = cleft lip/palate; EEG = electroencephalogram; MR = mental retardation; PF = palpebral fissures; PIP = proximal interphalangeal; SS = short stature; VSD = ventricular-septal defect.