A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

Eur J Med Genet. 2011 Jan-Feb;54(1):94-6. doi: 10.1016/j.ejmg.2010.09.008. Epub 2010 Oct 8.

Abstract

We report a de novo 12q13.11 deletion of 1.3 Mb in an 10-year-old dysmorphic girl with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting mainly of severe mental retardation, cleft palate, and high myopia. The deleted region encompasses 16 RefSeq genes. Among these, it is hypothesized that haploinsufficiency of AMIGO2 is potentially responsible for the mental retardation of this patient, and of COL2A1 for the cleft palate and high myopia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 12 / genetics*
  • Cleft Palate / pathology*
  • Comparative Genomic Hybridization
  • Female
  • Humans
  • Intellectual Disability / pathology*
  • Myopia / pathology*