Article
20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome.
Clinical genetics - 1 Jun 1992
Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G
Abstract excerpt
We report two related patients, presenting duplication 20p, with a characteristic phenotype including normal growth pattern, mental and psychomotor retardation, reduced motor coordination, poor language development, round face and prominent cheeks, vertebral and dental anomalies, and renal malformations. Familial chromosome analysis showed a balanced translocation t(20;21)(p11;q22) in three members of the family....
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