The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history

Am J Med Genet A. 2007 May 1;143A(9):995-8. doi: 10.1002/ajmg.a.31681.

Abstract

We report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended in a healthy girl. A high-resolution G-band karyotype (550-850 bands), together with Fluorescence in situ Hybridization (FISH) techniques, detected in the father a 4p interstitial euchromatic duplication. This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs.

Publication types

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

MeSH terms

  • Abortion, Eugenic*
  • Chromosome Banding
  • Chromosomes, Human, Pair 4*
  • Female
  • Gene Duplication*
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Pregnancy