Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.
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).
Lukusa
T
T
Centre for Human Genetics, University Hospital of Leuven, Belgium.
Van Buggenhout
G
G
Devriendt
K
K
Meireleire
J
J
Van Goethem
G
G
Roelen
L
L
Fryns
J P
JP
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