MONOSOMY-8Q - PRENATAL-DIAGNOSIS AND AUTOPSY FINDINGS

The autopsy findings of a fetus with deletion of the long arm of chrom osome 8 are described. Many of the features are similar to those of th e tricho-rhino-phalangeal syndromes, types I and II, which are associa ted with deletions on chromosome 8q24. Other findings in this case, su ch as total absence of the corpus callosum and intestinal malrotation, have not been described in these syndromes. Genes involved in the dev elopment of the latter malformations may reside in adjacent regions on the long arm of chromosome 8. An elevated serum level of beta human c horionic gonadotropin (betahCG) was found during pregnancy. This aberr ation should be included with other chromosomal disorders which may be detected by this test.