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Inverted tandem duplication generates a duplication deficiency of chromosome 8p
F J Dill1, M Schertzer, J Sandercock
1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Clinical Genetics
|August 1, 1987
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.