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Duplication of distal 19q: Clinical report and review

✍ Scribed by Boyd, Ellen ;Grass, Frank S. ;Parke, James C. ;Knutson, Kam ;Stevenson, Roger E.

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
404 KB
Volume
42
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

We report on a 20‐month‐old boy with duplication of the distal part of 19q. His karyotype is 46, XY, βˆ’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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