Genomic disorders on 22q11

American Journal of Human Genetics
H E McDermid, Bernice E Morrow

Abstract

The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital malformations. Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS)-are associated with four, three, and one dose, respectively, of parts of 22q11. The critical region for CES lies centromeric to the deletion region of VCFS/DGS, although, in some cases, the extra material in CES extends across the VCFS/DGS region. The der(22) syndrome region overlaps both the CES region and the VCFS/DGS region. Molecular approaches have revealed a set of common chromosome breakpoints that are shared between the three disorders, implicating specific mechanisms that cause these rearrangements. Most VCFS/DGS and CES rearrangements are likely to occur by homologous recombination events between blocks of low-copy repeats (e.g., LCR22), whereas nonhomologous recombination mechanisms lead to the constitutional t(11;22) translocation. Meiotic nondisjunction events in carriers of the t(11;22) translocation can then lead to offspring with der(22) syndrome. The molecular basis of the clinical phenotype o...Continue Reading

References

Aug 1, 1977·The Journal of Pediatrics·G S PaiD L Van Dyke
Sep 11, 1992·American Journal of Medical Genetics·J L Van HoveS G Kahler
Dec 1, 1987·The American Journal of Anatomy·D E BockmanM L Kirby
Jan 1, 1985·American Journal of Medical Genetics·J A ReissR E Magenis
Jan 1, 1980·Human Genetics·M FraccaroL Iselius
Jan 1, 1981·Human Genetics·A de la ChapelleP Aula
Dec 14, 1995·Nature·R Ramírez-SolisA Bradley
Aug 1, 1995·Circulation Research·M L Kirby, K L Waldo
Jan 16, 1995·American Journal of Medical Genetics·J H KnollJ Wagstaff
Aug 1, 1994·The Journal of Nervous and Mental Disease·A E PulverD Housman
Jun 15, 1994·American Journal of Medical Genetics·E W ChowR Weksberg
Aug 1, 1996·Developmental Dynamics : an Official Publication of the American Association of Anatomists·D L ChapmanV E Papaioannou
Feb 1, 1997·Human Molecular Genetics·A PizzutiB Dallapiccola
Jun 1, 1997·American Journal of Human Genetics·H O'DonnellP Scambler
Sep 1, 1997·Molecular and Cellular Biology·E AkgünM Jasin
Oct 27, 1997·American Journal of Human Genetics·C CarlsonB E Morrow
Feb 7, 1998·Proceedings of the National Academy of Sciences of the United States of America·A PuechA I Skoultchi
Nov 13, 1998·Human Molecular Genetics·M WakamiyaR R Behringer
Feb 11, 1999·American Journal of Human Genetics·A RauchM Hofbeck

❮ Previous
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Citations

Nov 30, 2006·Pediatric Radiology·James R ClarkeElizabeth A Cummings
Sep 25, 2010·Journal of Neural Transmission·H C BauerH Bauer
Jun 6, 2008·Amino Acids·Alecia WillisDavid Valle
Mar 17, 2006·Current Psychiatry Reports·Edith M JolinRonald A Weller
Aug 2, 2003·Journal of Pediatric Surgery·S Sebnem KilicHasan Dogruyol
Sep 2, 2003·Cytokine & Growth Factor Reviews·Mohamad AzharThomas Doetschman
Sep 4, 2003·Human Molecular Genetics·M Tassabehji
Aug 13, 2008·Human Molecular Genetics·Bhaskar ChandaOrdan J Lehmann
Apr 21, 2004·Current Opinion in Cardiology·Antonio Baldini
Apr 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Diane L PickeringWarren G Sanger
Apr 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zhishuo OuAnkita Patel
Jun 7, 2007·Clinical Dysmorphology·Jair HuberEster S Ramos
Nov 1, 2012·Current Opinion in Pediatrics·Shihui YuRobert J Shprintzen
Sep 16, 2010·Genome Research·Andy ItsaraEvan E Eichler
Jul 16, 2003·Cold Spring Harbor Symposia on Quantitative Biology·F VitelliA Baldini
May 3, 2005·Journal of Medical Genetics·A Jansen, E Andermann
Oct 5, 2010·Arteriosclerosis, Thrombosis, and Vascular Biology·Zhan-Peng HuangDa-Zhi Wang
Aug 27, 2013·BMC Developmental Biology·Laina FreyerBernice E Morrow
Nov 19, 2008·PathoGenetics·Wenli GuJames R Lupski
Sep 13, 2011·PloS One·Maija WessmanUNKNOWN FinnDiane Study Group
Nov 19, 2005·Internal Medicine·Ryusuke MatsumotoTakao Koike
Oct 5, 2011·Genetics and Molecular Research : GMR·Y SoysalN İmirzalıoğlu
Mar 16, 2006·Proceedings of the National Academy of Sciences of the United States of America·Alexander Eckehart UrbanMichael Snyder
Dec 26, 2013·Proceedings of the National Academy of Sciences of the United States of America·Aoife McLysaghtDavid A Collier
Aug 15, 2014·Journal of Medical Genetics·Ana Beleza-MeirelesMay Tassabehji
Feb 18, 2016·Seminars in Cell & Developmental Biology·Seoyoung KimScott Keeney
Aug 27, 2013·Ophthalmology·Jose A CordovezAlex V Levin

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