1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

Eur J Med Genet. Nov-Dec 2008;51(6):646-50. doi: 10.1016/j.ejmg.2008.07.007. Epub 2008 Aug 5.


We report two new patients with the 1.4Mb recurrent 22q11.2 distal deletion syndrome. Features common to both children, as well as to several of the previously reported cases, include normal palate, smooth philtrum, hypoplastic alae nasi and delayed development. Both children are small but not growth retarded, and are microcephalic. Their developmental delay is global and most pronounced for language acquisition. One child has unilateral sensorineural hearing loss and encopresis, and the other child has treatment-responsive nocturnal epileptogenic activity. These two new cases confirm the recurrent nature of the deletion and help to further delineate the phenotype.

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome