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Case Reports
. 1987 Aug;32(2):109-13.
doi: 10.1111/j.1399-0004.1987.tb03335.x.

Inverted tandem duplication generates a duplication deficiency of chromosome 8p

F J Dill  1 , M Schertzer, J Sandercock, B Tischler, S Wood
Affiliations
Case Reports

Inverted tandem duplication generates a duplication deficiency of chromosome 8p

F J Dill et al. Clin Genet. 1987 Aug.

Abstract

An adult female with sever mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (p12----p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23----8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication-deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.

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