title: First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH.
abstract: Partial trisomy of 19q has been reported in only 13 patients, of which all but one have been due to unbalanced translocations. Only one previous report of a de novo duplication of distal 19q has been described in a fetal chorionic villus sample. There was no description of clinical phenotype in this report. We describe the clinical manifestations and cytogenetic analysis in a child with an inverted duplication of 19q 13.3 to 13.4 confirmed by FISH using a chromosome 19 whole chromosome probe. This case represents the first report of a liveborn with "pure" distal trisomy 19q. Findings defining this uncommon aneusomy are a flat facies, down turned mouth, abnormal ears, and a short neck with redundant skin folds.
authors.affiliation: Regional Medical Genetics Centre, Belfast City Hospital Trust, Belfast, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Bhat
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: A
authors.initials: A
authors.lastname: Getty
authors.forename: D
authors.initials: D
authors.lastname: McManus
authors.forename: R
authors.initials: R
authors.lastname: Tubman
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy