T. Lukusa et al., Zygodactyly as the most striking physical anomaly in an adult male patientwith pure partial trisomy 1q., ANN GENET, 41(4), 1998, pp. 199-204
We report on a dysmorphic and mentally retarded adult male patient with par
tial trisomy Iq resulting from a "de novo" tandem duplication of the 1q32.3
-->q42 region. The dysmorphic features consisted of facial asymmetry, synop
hrys, right external strabismus, teeth anomalies and bilateral syndactyly o
f fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison i
s made between the present observation and previously reported cases with p
ure duplication including the chromosome 1 segment (q32-->q42).