Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Am J Med Genet A. 2008 May 15;146A(10):1330-4. doi: 10.1002/ajmg.a.32267.


Deletions involving the long arm of chromosome 18 have been reported in many patients. Most of these deletions are localized in the distal half of the long arm (18q21.1 --> qter) and are detectable by standard cytogenetic analysis. However, smaller interstitial deletions leading to a recognizable phenotype and residing in the region around chromosome band 18q12.3 (bands q12-q21) are less common. Here we report on an interstitial deletion of less than 1.8 Mb within chromosomal band 18q12.3. The phenotypic features of the propositus correspond well with those observed in patients with larger cytogenetically detectable deletions encompassing chromosome band 18q12.3. The deletion enabled us to define a critical region for the following features of the del(18)(q12.2q21.1) syndrome: hypotonia, expressive language delay, short stature, and behavioral problems.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Behavioral Symptoms / genetics*
  • Child
  • Chromosome Aberrations
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18 / genetics*
  • Growth Disorders / genetics*
  • Humans
  • Language Development Disorders / genetics*
  • Male
  • Muscle Hypotonia / genetics*
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis
  • Syndrome