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

Citation
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
Citations number
29
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
41
Issue
4
Year of publication
1998
Pages
199 - 204
Database
ISI
SICI code
0003-3995(1998)41:4<199:ZATMSP>2.0.ZU;2-Z
Abstract
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).