Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q

Ann Genet. 1998;41(4):199-204.


We report on a dysmorphic and mentally retarded adult male patient with partial trisomy 1q resulting from a "de novo" tandem duplication of the 1q32.3-->q42 region. The dysmorphic features consisted of facial asymmetry, synophrys, right external strabismus, teeth anomalies and bilateral syndactyly of fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison is made between the present observation and previously reported cases with pure duplication including the chromosome 1 segment (q32-->q42).

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Banding
  • Chromosomes, Human, Pair 1*
  • Humans
  • Intellectual Disability
  • Male
  • Syndactyly
  • Trisomy*