Abstract
A tandem duplication of the proximal long arm of chromosome 19 was identified in a 2 year old female infant with developmental delays. GTG technique revealed that the long arm region 19q13.13-q13.33 was tandemly duplicated. The karyotype is: 46,XX,dup(19)(q13.13q13.33) FISH technique using whole chromosome paint showed that the abnormal chromosome was composed entirely of chromosome 19 material. Parental chromosomes were normal.
To our knowledge, this is the first case of “pure” trisomy of 19q13.13-q13.33. Clinical follow up of our patient and a further molecular characterization of the breakpoints involved should shed light on the development effects of the duplicated genes in this region. These studies are in progress.
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Sekhon, G., Johnson, E. Tandem duplication of bands g13.13g13.33 resulting in partial trisomy of long arm of chromosome 19. Genet Med 2, 94 (2000). https://doi.org/10.1097/00125817-200001000-00157
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DOI: https://doi.org/10.1097/00125817-200001000-00157