Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

Clin Genet. 2008 Nov;74(5):469-75. doi: 10.1111/j.1399-0004.2008.01094.x. Epub 2008 Sep 20.


We report the identification of microdeletions of 16q11.2q12.2 by microarray-based comparative genomic hybridization (aCGH) in two individuals. The clinical features of these two individuals include hypotonia, gastroesophageal reflux, ear anomalies, and toe deformities. Other features include developmental delay, mental retardation, hypothyroidism, and seizures. The identification of common clinical features in these two individuals and those of one other report suggests microdeletion of 16q12.1q12.2 is a rare, emerging syndrome. These results illustrate that aCGH is particularly suited to identify rare chromosome abnormalities in patients with apparently non-syndromic idiopathic mental retardation and birth defects.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 16 / genetics*
  • Female
  • Gene Deletion*
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Syndrome