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Monosomy 8q: Prenatal diagnosis and autopsy findings
Author(s) -
Ariel I.,
Anteby E.,
Soffer D.,
Tobias M.,
Yagel S.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140723
Subject(s) - monosomy , autopsy , prenatal diagnosis , corpus callosum , chromosome , trisomy , fetus , aneuploidy , long arm , genetics , pathology , biology , medicine , pregnancy , karyotype , gene
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 (βhCG) was found during pregnancy. This aberration should be included with other chromosomal disorders which may be detected by this test.