Duplication of distal 19q: clinical report and review.

doi:10.1002/ajmg.1320420314

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Article

Duplication of distal 19q: clinical report and review.

American journal of medical genetics - 1 Feb 1992

Boyd E, Grass F S, Parke J C, Knutson K, Stevenson R E

Abstract excerpt

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 characterist...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 22
Humans
Infant
Male
Phenotype
Translocation, Genetic

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