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Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
J C Barber1, R S James, C Patch
1Wessex Regional Genetics Laboratory, Salisbury District Hospital, United Kingdom.
American Journal of Medical Genetics
|April 15, 1994
Abstract:
We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribution to the phenotype of the patient which was comparable to that of previous cases of 8p duplication. Similar investigations of inverted duplications involving other chromosomes may reveal unexpected deletions with significant phenotypic consequences.