Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

Eur J Med Genet. 2008 Mar-Apr;51(2):172-7. doi: 10.1016/j.ejmg.2007.12.002. Epub 2008 Jan 14.

Abstract

We report on a 12 year-old boy presenting with severe developmental delay, dysmorphic features, limb anomalies, growth retardation, hypoplastic vermis and corpus callosum. Conventional and high-resolution cytogenetic analyses were normal. CGH-array allowed characterisation of a de novo 6.2 Mb 18q21.2q21.32 interstitial deletion involving TCF4, the recently identified gene responsible for Pitt-Hopkins syndrome (PHS). No tachypnoea-apnoea paroxysms were observed. We discuss the dysmorphic features particularly involving the ears, which might be helpful towards PHS and 18q21 deletion diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Child
  • Chromosomes, Human, Pair 18 / genetics*
  • DNA-Binding Proteins
  • Developmental Disabilities / genetics*
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis*
  • Sequence Deletion*
  • TCF Transcription Factors / genetics*
  • Transcription Factor 4
  • Transcription Factor 7-Like 2 Protein
  • Transcription Factors

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • DNA-Binding Proteins
  • TCF Transcription Factors
  • TCF4 protein, human
  • TCF7L2 protein, human
  • Transcription Factor 4
  • Transcription Factor 7-Like 2 Protein
  • Transcription Factors