Duplication of distal 19q: Clinical report and review

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Abstract

We report on a 20-month-old boy with duplication of the distal part of 19q. His karyotype is 46, XY, −22, + der(22), t(19;22) (q13.3; p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation, and growth impairment. These characteristics are similar to those in the other 10 reported cases of distal 19q duplication and help delineate the phenotype. A review of the literature is presented.

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