The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements

Prenat Diagn. 2002 Feb;22(2):141-3.


We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes.

Publication types

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

MeSH terms

  • Adult
  • Amniocentesis
  • Amniotic Fluid / chemistry
  • Cardiomyopathy, Hypertrophic / genetics
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 14*
  • DNA / analysis
  • Female
  • Growth Disorders / genetics
  • Humans
  • Isochromosomes
  • Polyhydramnios / complications
  • Pregnancy
  • Respiratory Tract Diseases / genetics
  • Translocation, Genetic
  • Uniparental Disomy / genetics*
  • alpha-Fetoproteins / analysis


  • alpha-Fetoproteins
  • DNA