Paternal Uniparental Disomy of Chromosome 14 with Hypospadias

Cytogenet Genome Res. 2016;148(4):256-61. doi: 10.1159/000446783. Epub 2016 Jun 15.


Paternal uniparental disomy 14 (patUPD14) is a distinct, clinically recognizable syndrome. Using a clinical SNP microarray, we identified patUPD14 in a boy with a normal karyotype presenting cardiomyopathy and facial anomalies, a specific configuration of the thoracic ribs ('coat hanger sign'), and hypospadias. Analyses of polymorphic microsatellites confirmed the diagnosis of patUPD14. We discuss the functions of the genes included in the rearrangement and their involvement in the pathogenesis of these disorders, especially hypospadias. ESR2 single nucleotide polymorphisms (rs944050; 2681-4A>G) have been associated with an increased risk of hypospadias in previous studies. The patient's ESR2 (rs944050) genotype is GG, whereas the parents both exhibit an AG genotype. This report sheds light on the genetic phenomenon in which the combination of a polymorphism and UPD can lead to new phenotypes, such as hypospadias.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People / genetics
  • Cardiomyopathies / genetics
  • Child, Preschool
  • Chromosomes, Human, Pair 14 / genetics
  • Estrogen Receptor beta / genetics
  • Face / abnormalities
  • Female
  • Genotype
  • Humans
  • Hypospadias / genetics*
  • Infant
  • Karyotype
  • Male
  • Polymorphism, Single Nucleotide / genetics
  • Ribs / abnormalities
  • Uniparental Disomy / diagnosis
  • Uniparental Disomy / genetics*


  • ESR2 protein, human
  • Estrogen Receptor beta

Supplementary concepts

  • Uniparental disomy, paternal, chromosome 14