Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31)

Genet Couns. 1997;8(1):19-24.

Abstract

We report on a second trimester female fetus with 4q duplication (4q27-->4qter) and 18q deficiency (18q21.31-->qter) as the unbalanced product of a t(4;18)(q27;q21.31)mat. On fetopathological examination this fetus presented clinical features suggestive of the diagnosis of trisomy 18. A review is given of other reported patients with 4q duplication/18q deficiency.

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 18
  • Chromosomes, Human, Pair 4
  • Female
  • Fetal Death
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Multigene Family
  • Translocation, Genetic*
  • Trisomy / genetics*