“…Trisomy 3 is found in about 0.8% of the karyotyped first-trimester spontaneous abortuses [Jackson-Cook, 2011], but is not reported in live birth. In mosaic manner, trisomy 3 is extremely rare; only three female cases were reported in earlier published data [Metaxotou et al, 1981;Kuhn et al,1987;De Keyser et al, 1988], as shown in Table I. In the present study, we report a 5-year-old boy with trisomy 3 mosaicism who exhibits multi-system deformity, including short stature, atypical form of ectodermal dysplasias, refractory diarrhea, and limb anomalies. We detected the trisomy 3 in three different origin cells via fluorescence in situ hybridization (FISH) and short tandem repeat (STR) genotyping.…”