We report a 6-year-old mildly retarded boy with trisomy 18 in 44% of p
eripheral lymphocytes. He had mild nonspecific dysmorphic features, mi
crocephaly, micropenis with cryptorchidism and postnatal overgrowth, T
risomy 18 mosaicism was confirmed by a fluorescent in situ hybridizati
on study, Ten previous reports of trisomy 18 mosaicism with normal or
subnormal intelligence have been described but only one case of trisom
y 18 mosaicism with high stature has been reported.