Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

Clin Dysmorphol. 2016 Apr;25(2):77-81. doi: 10.1097/MCD.0000000000000108.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 15 / genetics
  • Coloboma / diagnosis
  • Coloboma / genetics*
  • Comparative Genomic Hybridization
  • DNA Methylation
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Female
  • Humans
  • Incidental Findings*
  • Infant
  • Mosaicism
  • Phenotype*
  • Trisomy / diagnosis
  • Trisomy / genetics*
  • Uniparental Disomy / diagnosis
  • Uniparental Disomy / genetics*

Supplementary concepts

  • Chromosome 15, trisomy mosaicism