Direct intrachromosomal duplication of 16q and heritable fragile site fra (10) (q25) in the same patient.
We describe a woman with profound mental retardation and a direct duplication of 16q and fragile site fra(10)(q25). The identification and possible origin of the duplicated 16q is discussed along with the clinical manifestations. To our knowledge this is the first direct duplication of 16q to be reported. The karyotype is shown to be 46,XX, dir dup (16) (q11.2----q13).
D000328:Adult; D000782:Aneuploidy; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*