A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation

Clin Dysmorphol. 2012 Oct;21(4):204-207. doi: 10.1097/MCD.0b013e3283554d15.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Chromosome Duplication / genetics*
  • Chromosomes, Human, Pair 16 / genetics*
  • Cleft Lip / complications
  • Cleft Lip / genetics*
  • Cleft Palate / complications
  • Cleft Palate / genetics*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Rubinstein-Taybi Syndrome / complications
  • Rubinstein-Taybi Syndrome / genetics*