Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages

Am J Med Genet. 1994 Sep 1;52(3):349-51. doi: 10.1002/ajmg.1320520319.

Abstract

We present the first case of direct and inverted reciprocal chromosome insertions between human chromosomes 7 and 14, ascertained because of repeated spontaneous abortions. Prometaphase GTG banding analysis showed the karyotype to be 46, XX, inv ins (7;14)(7pter-->7q11.23::14q32.2-->14q 22::7q21.2-->7qter), dir ins(14;7)(14pter-->14q 22::7q11.23-->7q21.2::14q32.2-->14qter). Origins of the insertion have been confirmed by chromosome painting with libraries specific for chromosomes 7 and 14 using fluorescence in situ hybridization.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 14* / ultrastructure
  • Chromosomes, Human, Pair 7* / ultrastructure
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Pregnancy