title: Duplication of distal 19q: clinical report and review.
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.
authors.affiliation: Greenwood Genetic Center, South Carolina 29646.
authors.forename: E
authors.initials: E
authors.lastname: Boyd
authors.forename: F S
authors.initials: FS
authors.lastname: Grass
authors.forename: J C
authors.initials: JC
authors.lastname: Parke
authors.forename: K
authors.initials: K
authors.lastname: Knutson
authors.forename: R E
authors.initials: RE
authors.lastname: Stevenson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000648:ultrastructure*; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics