A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features

Am J Med Genet A. 2016 Sep;170(9):2445-8. doi: 10.1002/ajmg.a.37824. Epub 2016 Jul 4.


5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). © 2016 Wiley Periodicals, Inc.

Keywords: 5q11.2; deletion; developmental delay; short stature; syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics*
  • Echocardiography
  • Genetic Association Studies
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Phenotype*
  • Syndrome
  • Ultrasonography