Direct intrachromosomal duplication of 16q and heritable fragile site fra (10) (q25) in the same patient
- 1 November 1984
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 19 (3) , 507-513
- https://doi.org/10.1002/ajmg.1320190312
Abstract
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).Keywords
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