Absence of SYCP3 mutations in women with recurrent miscarriage with at least one trisomic miscarriage

Reprod Biomed Online. 2012 Feb;24(2):251-3. doi: 10.1016/j.rbmo.2011.10.013. Epub 2011 Nov 3.


Mutations within the coding regions of the synaptonemal complex gene SYCP3 have previously been reported in women with recurrent miscarriage. The present study found no mutations in any of the coding exons or the intron/exon boundaries among 50 recurrent miscarriage patients with at least one documented trisomic miscarriage, suggesting that mutations in SYCP3 do not contribute significantly to risk for recurrent miscarriage through maternal meiotic nondisjunction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Cell Cycle Proteins
  • Chromosomes, Human, 13-15
  • Chromosomes, Human, 21-22 and Y
  • Chromosomes, Human, Pair 16 / genetics
  • DNA-Binding Proteins
  • Female
  • Humans
  • Mosaicism
  • Nondisjunction, Genetic
  • Nuclear Proteins / genetics*
  • Synaptonemal Complex / genetics*
  • Trisomy / genetics*


  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • SYCP3 protein, human

Supplementary concepts

  • Chromosome 16, trisomy