The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
Gene Review

DGCR  -  DiGeorge syndrome chromosome region

Homo sapiens

Synonyms: CATCH22, DGS, VCF
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of DGCR


Psychiatry related information on DGCR

  • The patient has some features which have been reported in individuals with DGS/VCFS, including: facial dysmorphia, mental retardation, long slender digits and genital anomalies [6].
  • Schizophrenia or schizoaffective disorders are often found in patients affected by DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11 [7].
  • CONCLUSION: Oriented screening based on transfusion or drug addiction history seems to have better efficiency than the screening policy recommended by the DGS [8].
  • In the second of two articles in involving mental health users in service development, Vivien Lindow discusses the Catch-22 of stigma and representativeness [9].

High impact information on DGCR


Chemical compound and disease context of DGCR


Biological context of DGCR

  • We have used gene targeting in the mouse to delete a defined region within the conserved DGS critical region (DGCR) on mouse chromosome 16 to prospectively investigate the role of the mouse DGCR in 22q11 syndromes [14].
  • A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11 [15].
  • Using probes and cosmids from the DiGeorge critical region (DGCR), deletions of 22q11 were detected in 83% of DGS and 68% of VCFS patients by DNA dosage analysis, fluorescence in situ hybridisation, or by both methods [16].
  • We conclude that FISH is an efficient and direct method for the detection of 22q11 deletions in subjects with features of DGS and VCFS as well as in pregnancies at high risk for a deletion [16].
  • We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (R32) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS [17].

Anatomical context of DGCR

  • Using a probe for the D22S9 locus, we have examined DNA from eight DGS cell lines and from one balanced-translocation carrier parent of a DGS proband [18].
  • Although it is not a frequent finding, unilateral facial nerve palsy will be included among the symptoms of CATCH 22 syndrome [3].
  • DiGeorge syndrome (DGS) is a congenital disease characterized by defects in organs and tissues that depend on contributions by cell populations derived from neural crest for proper development [19].
  • Hypoplasia of the thymus hypocalcaemia, and seizures in early infancy, which are clinical features of DGS, were also observed [20].
  • Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene(s) involved in embryonic development may be responsible for its etiology [21].

Associations of DGCR with chemical compounds


Other interactions of DGCR


Analytical, diagnostic and therapeutic context of DGCR


  1. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Jacquet, H., Raux, G., Thibaut, F., Hecketsweiler, B., Houy, E., Demilly, C., Haouzir, S., Allio, G., Fouldrin, G., Drouin, V., Bou, J., Petit, M., Campion, D., Frébourg, T. Hum. Mol. Genet. (2002) [Pubmed]
  2. HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. Magnaghi, P., Roberts, C., Lorain, S., Lipinski, M., Scambler, P.J. Nat. Genet. (1998) [Pubmed]
  3. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. Alikaşifoğlu, M., Malkoç, N., Ceviz, N., Ozme, S., Uludoğan, S., Tunçbilek, E. Turk. J. Pediatr. (2000) [Pubmed]
  4. In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22. Cannizzaro, L.A., Emanuel, B.S. Cytogenet. Cell Genet. (1985) [Pubmed]
  5. Molecular genetics of congenital heart disease. Gelb, B.D. Curr. Opin. Cardiol. (1997) [Pubmed]
  6. Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. Holmes, S.E., Riazi, M.A., Gong, W., McDermid, H.E., Sellinger, B.T., Hua, A., Chen, F., Wang, Z., Zhang, G., Roe, B., Gonzalez, I., McDonald-McGinn, D.M., Zackai, E., Emanuel, B.S., Budarf, M.L. Hum. Mol. Genet. (1997) [Pubmed]
  7. Association study of a promoter polymorphism of UFD1L gene with schizophrenia. De Luca, A., Pasini, A., Amati, F., Botta, A., Spalletta, G., Alimenti, S., Caccamo, F., Conti, E., Trakalo, J., Macciardi, F., Dallapiccola, B., Novelli, G. Am. J. Med. Genet. (2001) [Pubmed]
  8. Hepatitis C virus infection risk factors in patients admitted in hospital emergency departments in Picardy. Value of oriented screening based on recommendations of the 'Direction Générale de la Santé'. Capron, D., Bensousan, T., Darchis, J.P., Barbare, J.C., Butel, J., Bental, A., Cadranel, J.F., Goll, A., Levy, P., Ink, O., Autret, P., Bouraya, D., Thiebaut, J.M., Moucheron, J.J., Bernard, M., Lallement, P.Y., Delobel, P. European journal of gastroenterology & hepatology. (1999) [Pubmed]
  9. Experts, lies and stereotypes. Lindow, V. The Health service journal. (1991) [Pubmed]
  10. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Daw, S.C., Taylor, C., Kraman, M., Call, K., Mao, J., Schuffenhauer, S., Meitinger, T., Lipson, T., Goodship, J., Scambler, P. Nat. Genet. (1996) [Pubmed]
  11. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Budarf, M.L., Collins, J., Gong, W., Roe, B., Wang, Z., Bailey, L.C., Sellinger, B., Michaud, D., Driscoll, D.A., Emanuel, B.S. Nat. Genet. (1995) [Pubmed]
  12. Transcription, apoptosis and p53: catch-22. Schuler, M., Green, D.R. Trends Genet. (2005) [Pubmed]
  13. Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization. Calabrese, G., Mingarelli, R., Francalanci, P., Boldrini, R., Palka, G., Bosman, C., Novelli, G., Dallapiccola, B. Hum. Genet. (1996) [Pubmed]
  14. Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse. Kimber, W.L., Hsieh, P., Hirotsune, S., Yuva-Paylor, L., Sutherland, H.F., Chen, A., Ruiz-Lozano, P., Hoogstraten-Miller, S.L., Chien, K.R., Paylor, R., Scambler, P.J., Wynshaw-Boris, A. Hum. Mol. Genet. (1999) [Pubmed]
  15. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Halford, S., Wadey, R., Roberts, C., Daw, S.C., Whiting, J.A., O'Donnell, H., Dunham, I., Bentley, D., Lindsay, E., Baldini, A. Hum. Mol. Genet. (1993) [Pubmed]
  16. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. Driscoll, D.A., Salvin, J., Sellinger, B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S. J. Med. Genet. (1993) [Pubmed]
  17. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. Li, M., Zackai, E.H., Niikawa, N., Kaplan, P., Driscoll, D.A. Am. J. Med. Genet. (1996) [Pubmed]
  18. Molecular studies of DiGeorge syndrome. Fibison, W.J., Budarf, M., McDermid, H., Greenberg, F., Emanuel, B.S. Am. J. Hum. Genet. (1990) [Pubmed]
  19. HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Farrell, M.J., Stadt, H., Wallis, K.T., Scambler, P., Hixon, R.L., Wolfe, R., Leatherbury, L., Kirby, M.L. Circ. Res. (1999) [Pubmed]
  20. Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22. Reddy, K.S., Sulcova, V., Siassi, B. J. Med. Genet. (1996) [Pubmed]
  21. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. Funke, B., Saint-Jore, B., Puech, A., Sirotkin, H., Edelmann, L., Carlson, C., Raft, S., Pandita, R.K., Kucherlapati, R., Skoultchi, A., Morrow, B.E. Genomics (1997) [Pubmed]
  22. Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Halford, S., Wilson, D.I., Daw, S.C., Roberts, C., Wadey, R., Kamath, S., Wickremasinghe, A., Burn, J., Goodship, J., Mattei, M.G. Hum. Mol. Genet. (1993) [Pubmed]
  23. A phase I comparative study of contraceptive vaginal films containing benzalkonium chloride and nonoxynol-9. Postcoital testing and colposcopy. Mauck, C.K., Baker, J.M., Barr, S.P., Abercrombie, T.J., Archer, D.F. Contraception. (1997) [Pubmed]
  24. The transition from latent to overt hypoparathyroidism in a child with CATCH 22 who showed subnormal parathyroid hormone response to ethylenediaminetetraacetic acid infusion. Hasegawa, T., Hasegawa, Y., Aso, T., Koto, S., Tanaka, N., Asamura, S., Nagai, T., Tsuchiya, Y. Eur. J. Pediatr. (1996) [Pubmed]
  25. Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Guris, D.L., Duester, G., Papaioannou, V.E., Imamoto, A. Dev. Cell (2006) [Pubmed]
  26. The sodium fluoride 'catch-22'. Shambaugh, G.E. Archives of otolaryngology (Chicago, Ill. : 1960) (1982) [Pubmed]
  27. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Ravnan, J.B., Chen, E., Golabi, M., Lebo, R.V. Am. J. Med. Genet. (1996) [Pubmed]
  28. Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Goldmuntz, E., Wang, Z., Roe, B.A., Budarf, M.L. Genomics (1996) [Pubmed]
  29. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. Lichtner, P., König, R., Hasegawa, T., Van Esch, H., Meitinger, T., Schuffenhauer, S. J. Med. Genet. (2000) [Pubmed]
  30. Molecular genetic analysis of the DiGeorge syndrome among Korean patients with congenital heart disease. Hur, H., Kim, Y.J., Noh, C.I., Seo, J.W., Kim, M.H. Mol. Cells (1999) [Pubmed]
  31. Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. Jaquez, M., Driscoll, D.A., Li, M., Emanuel, B.S., Hernandez, I., Jaquez, F., Lembert, N., Ramirez, J., Matalon, R. Am. J. Med. Genet. (1997) [Pubmed]
  32. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joh-o, K., Ikeda, K., Nishibatake, M., Ando, M., Momma, K. Am. J. Med. Genet. (1994) [Pubmed]
  33. Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS). Tharapel, A.T., Kadandale, J.S., Martens, P.R., Wachtel, S.S., Wilroy, R.S. Am. J. Med. Genet. (2002) [Pubmed]
  34. Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. Van Hemel, J.O., Schaap, C., Van Opstal, D., Mulder, M.P., Niermeijer, M.F., Meijers, J.H. J. Med. Genet. (1995) [Pubmed]
  35. Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Schuffenhauer, S., Lichtner, P., Peykar-Derakhshandeh, P., Murken, J., Haas, O.A., Back, E., Wolff, G., Zabel, B., Barisic, I., Rauch, A., Borochowitz, Z., Dallapiccola, B., Ross, M., Meitinger, T. Eur. J. Hum. Genet. (1998) [Pubmed]
WikiGenes - Universities