Analysis of a paracentric inversion in human oocytes: nonhomologous pairing in pachytene

Hum Genet. 1999 Sep;105(3):191-6. doi: 10.1007/s004399900120.

Abstract

A cytological analysis of the pairing configurations in meiosis in a 19-week human fetus with a de novo paracentric inversion of chromosome 7 (q11.23)(q21.1) is reported, using fluorescent in situ hybridization with a chromosome 7 DNA library, a DNA probe for the centromeric region of chromosome 7, and a probe for the William Syndrome Critical Region (WSCR) at 7q11.23. Of 1079 pachytene cells, 58% exhibited complete heterosynapsis of the inverted region while only 10.3% of cells exhibited the expected loop formation. Meiotic progression was observed to be normal.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Inversion*
  • Chromosomes, Human, Pair 7 / genetics*
  • Cytogenetic Analysis
  • Female
  • Fetus
  • Humans
  • In Situ Hybridization, Fluorescence
  • Meiosis / genetics
  • Oocytes / metabolism*
  • Ovary / embryology
  • Ovary / metabolism
  • Pregnancy