Monosomy 8q: Prenatal diagnosis and autopsy findings

I. Ariel, E. Anteby, D. Soffer, M. Tobias, S. Yagel

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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.

Original languageEnglish
Pages (from-to)640-643
Number of pages4
JournalPrenatal Diagnosis
Volume14
Issue number7
DOIs
StatePublished - 1 Jan 1994
Externally publishedYes

Keywords

  • Chromosome 8q —
  • agenesis of corpus callosum
  • partial monosomy 8q
  • tricho‐rhino‐phalangeal syndrome

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