Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism

Am J Med Genet A. 2013 Mar;161A(3):589-93. doi: 10.1002/ajmg.a.35713. Epub 2013 Feb 7.

Abstract

A patient with a de novo cryptic 7q36.2q36.3 deletion presented with multiple congenital eye abnormalities, short stature and craniofacial dysmorphism, in the absence of intellectual disability. This report further delineates the 7q36 microdeletion syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Adolescent
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7 / genetics*
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Humans
  • Male
  • Molecular Diagnostic Techniques