22q11 deletion syndrome


Summary: Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Top Publications

  1. Trevisan P, Barbosa S, Sperotto G, Costi C, de Omena Filho R, Silva A, et al. Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects. Am J Med Genet A. 2015;167:1406-8 pubmed publisher
  2. Levy Shraga Y, Gothelf D, Goichberg Z, Katz U, Somech R, Pinhas Hamiel O, et al. Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome. Am J Med Genet A. 2017;173:1301-1308 pubmed publisher
    ..Hypoparathyroidism is common and may present during the neonatal period as well as later in life. Thyroid abnormalities may present during childhood, adolescence, or adulthood. ..
  3. Lin A, Ching C, Vajdi A, Sun D, Jonas R, Jalbrzikowski M, et al. Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry. J Neurosci. 2017;37:6183-6199 pubmed publisher
    ..2 locus. Cortical thickness and surface area were affected in opposite directions with more widespread effects of gene dosage on cortical surface area. ..