On this page, you can find abstracts of publications which are based on (information from) the Register.

Emerging microdeletion and microduplication syndromes.

Edited by Conny M.A. van Ravenswaaij-Arts and Tjitske Kleefstra.

European Journal of Medical Genetics Copyright © 2009 Elsevier Masson SAS. All rights reserved Publication History: Formerly known as Annales de Génétique 2009 March-June; Volume 52, Issues 2-3:pages 75-160. View this article in Science Direct

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Koolen DA, Pfundt R, De Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, Geurts van Kessel A, Veltman JA and De Vries BBA.

Hum Mutat. 2009 Mar;30(3):283-92. View this article in PubMed

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

De Leeuw N, Pfundt R, Koolen DA, Neefs I, Scheltinga I, Mieloo H, Sistermans EA, Nillesen W, Smeets DF, De Vries BBA and Knoers NVAM.

J Med Genet. 2008 Feb;45(2):122-124. View this article in PubMed

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LELM, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJM, Mancini GMS, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD II, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AOM, Veltman JA, Zuffardi O, Eichler EE and De Vries BBA.

J Med Genet. 2008 Nov;45(11):710-20. View this article in PubMed

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, De Ravel T, Devriendt K, Bongers EMHF, De Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Giudice ML, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, Van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King M-C, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJL, Sebat J, Romano C, Schwartz CE, Veltman JA, De Vries BBA, Vermeesch JR, Barber JCK, Willatt L, Tassabehji M and Eichler EE.

N Engl J Med. 2008 Oct;359(16):1685-99. View this article in PubMed

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/ hypogenesis.

Van Bon BWM, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, Van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, De Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O and De Vries BBA .

J Med Genet. 2008 Jun;45(6):364-354. View this article in PubMed

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.

Van Bon BWM, Koolen DA, Pfundt R, Van der Burgt I, De Leeuw N and De Vries BBA .

Am J Med Genet A. 2008 May;146A(9):1225-9. View this article in PubMed

The chromosome 9q subtelomere deletion syndrome.

Stewart DR, Kleefstra T.

Am J Med Genet C Semin Med Genet. 2007 Nov;145C(4):383-92. View this article in PubMed

Pure subtelomeric microduplications as a cause of mental retardation.

Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB.

Clin Genet. 2007 Oct;72(4):362-8. View this article in PubMed

Characterization of a recurrent 15q24 microdeletion syndrome.

Sharp AJ, Seizer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJL, de Vries BBA, Zuffardi O, Eichler EE

Hum Mol Genet. 2007 Mar;16(5):567-72. View this article in PubMed

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BCJ, Sistermans EA, de Vries BBA, and van Bokhoven H

Am J Hum Genet. 2006 Aug;79(2):370-7. View this article in PubMed

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, Geurts van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BBA

Nat Genet. 2006 Sep;38(9):999-1001. View this article in PubMed

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, Schinzel A.

Eur J Med Genet. 2006 Jul-Aug;49(4):279-91. View this article in PubMed

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen M, Reijmersdal S, Nillesen WM, Huys EH, de Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA

Am J Hum Genet. 2005 Oct;77(4):606-16. View this article in PubMed

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG

Nat Genet. 2004 Sep;36(9):955-7. View this article in PubMed

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA

J Med Genet. 2004 Dec;41(12):892-9. View this article in PubMed

Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization.

Koolen DA, Veltman JA, Renier WO, Droog RP, van Kessel AG, de Vries BB

Am J Med Genet A. 2004 Dec;131A(3):322-4. View this article in PubMed

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization

Koolen DA, Vissers LE, Nillesen W, Smeets D, van Ravenswaaij CM, Sistermans EA, Veltman JA, de Vries BB

Clin Genet. 2004 May;65(5):429-32 View this article in PubMed

Array-based comparative genomic hybridization for the genome wide detection of submicroscopic chromosomal abnormalities.

Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA

Am J Hum Genet. 2003 Dec;73(6):1261-70. View this article in PubMed

Telomeres: a diagnosis at the end of the chromosomes

B B A de Vries, R Winter, A Schinzel, C van Ravenswaaij-Arts

Department of Human Genetics, UMC, St Radboud Hospital, Nijmegen, The Netherlands. b.devries@antrg.umcn.nl In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500 subjects with mental retardation have been tested and reported of whom approximately 5% appeared to have a subtelomeric rearrangement. In this review, the clinical aspects of each known (submicroscopic) subtelomeric deletion will be presented and the various methods available for detecting subtelomeric abnormalities will be discussed. Not only will the patients and their families benefit from a good collection and report of the various telomeric abnormalities and their clinical phenotype, but it will also give more insight into the aetiology of mental retardation and malformation syndromes. J Med Genet. 2003 Jun;40(6):385-98. View this article in PubMed