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  • Title: Inverted tandem duplication generates a duplication deficiency of chromosome 8p.
    Author: Dill FJ, Schertzer M, Sandercock J, Tischler B, Wood S.
    Journal: Clin Genet; 1987 Aug; 32(2):109-13. PubMed ID: 2888552.
    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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