Duplication of distal 19q: Clinical report and review
- 1 February 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 42 (3) , 326-330
- https://doi.org/10.1002/ajmg.1320420314
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.Keywords
This publication has 3 references indexed in Scilit:
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- Distal 19q duplicationHuman Genetics, 1982
- Trisomy for the distal third of the long arm of chromosome 19 in brother and sisterHuman Genetics, 1979