A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay

Eur J Med Genet. Jul-Aug 2008;51(4):362-7. doi: 10.1016/j.ejmg.2008.03.001. Epub 2008 Mar 20.

Abstract

We delineate a pure "distal 14q duplication" phenotype, characterized by primordial short stature, mild developmental delay, and distinct facial dysmorphism with high forehead, mild hypertelorism, broad nasal bridge, dysplastic ear helices, short philtrum, thin and "cupid bow" upper lip, broad mouth, and micrognathia.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 14 / genetics*
  • Developmental Disabilities / genetics*
  • Facial Bones / abnormalities*
  • Female
  • Gene Duplication*
  • Growth Disorders / genetics*
  • Growth Disorders / metabolism
  • Growth Disorders / physiopathology
  • Human Growth Hormone / metabolism*
  • Humans
  • Hypertelorism / genetics
  • Neurosecretory Systems / physiopathology*

Substances

  • Human Growth Hormone