title: Monosomy 8q: prenatal diagnosis and autopsy findings.
abstract: The autopsy findings of a fetus with deletion of the long arm of chromosome 8 are described. Many of the features are similar to those of the tricho-rhino-phalangeal syndromes, types I and II, which are associated with deletions on chromosome 8q24. Other findings in this case, such as total absence of the corpus callosum and intestinal malrotation, have not been described in these syndromes. Genes involved in the development of the latter malformations may reside in adjacent regions on the long arm of chromosome 8. An elevated serum level of beta human chorionic gonadotropin (beta hCG) was found during pregnancy. This aberration should be included with other chromosomal disorders which may be detected by this test.
authors.affiliation: Department of Pathology (Mt Scopus and Kiryat Hadassah), Hadassah University Hospital, Jerusalem, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Ariel
authors.forename: E
authors.initials: E
authors.lastname: Anteby
authors.forename: D
authors.initials: D
authors.lastname: Soffer
authors.forename: M
authors.initials: M
authors.lastname: Tobias
authors.forename: S
authors.initials: S
authors.lastname: Yagel
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D006063:Chorionic Gonadotropin / Q000097:blood; D018997:Chorionic Gonadotropin, beta Subunit, Human; D002898:Chromosomes, Human, Pair 8; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010446:Peptide Fragments / Q000097:blood; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D006063:Chorionic Gonadotropin; D018997:Chorionic Gonadotropin, beta Subunit, Human; D010446:Peptide Fragments