title: Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.
abstract: 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).
authors.affiliation: Centre for Human Genetics, University Hospital of Leuven, Belgium.
authors.forename: T
authors.initials: T
authors.lastname: Lukusa
authors.forename: G
authors.initials: G
authors.lastname: Van Buggenhout
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: J
authors.initials: J
authors.lastname: Meireleire
authors.forename: G
authors.initials: G
authors.lastname: Van Goethem
authors.forename: L
authors.initials: L
authors.lastname: Roelen
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D013576:Syndactyly; D014314:Trisomy