Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia

J Appl Genet. 2013 Aug;54(3):361-5. doi: 10.1007/s13353-013-0150-4. Epub 2013 May 5.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 14
  • Comparative Genomic Hybridization
  • Ear / abnormalities
  • Facial Asymmetry
  • Female
  • Genetic Linkage
  • Goldenhar Syndrome / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Inheritance Patterns
  • Karyotyping
  • Mutation
  • Phenotype

Supplementary concepts

  • Chromosome 14q, partial deletions