Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability
By:
References
- 1. Roeleveld N, Zielhuis GA, Gabreels F. The prevalence of mental retardation: a critical review of recent literature.
- Dev Med Child Neurol. 1997 Feb;39(2):125-32.
- DOI: 10.1111/j.1469-8749.1997.tb07395.x
- 2. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14;86(5):749-64. DOI: 10.1016/j.ajhg.2010.04.006
- 3. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011
- Sep;43(9):838-46. DOI: 10.1038/ng.909
- 4. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002 Jun 15;30(12):e57. DOI: 10.1093/nar/gnf056
- 5. Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet. 2008
- Aug;124(1):1-17. DOI: 10.1007/s00439-008-0513-9
- 6. Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
- MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet. 2007 Jan-Feb;50(1):33-42. DOI: 10.1016/j. ejmg.2006.10.002
- 7. Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, et al. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. Eur J Med Genet. 2011 Jul-Aug;54(4):e425-32. DOI: 10.1016/j. ejmg.2011.03.007
- Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, et al. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Eur J Hum Genet. 2014 Jan;22(1):64-70. DOI: 10.1038/ejhg.2013.101
- 9. Butler MG, Fischer W, Kibiryeva N, Bittel DC. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A. 2008 Apr 1;146(7):854-60. DOI: 10.1002/ajmg.a.32249
- 10. Northrop EL, Ren H, Bruno DL, McGhie JD, Coffa J, Schouten J, et al. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.
- Hum Mutat. 2005 Nov;26(5):477-86. DOI: 10.1002/ humu.20243
- 11. Kirchhoff M, Gerdes T, Brunebjerg S, Bryndorf T.
- Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification. Am J Med Genet A. 2005 Dec 15;139(3):231-3. DOI: 10.1002/ajmg.a.31019
- 12. Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, et al. Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin Genet. 2006 Jan;69(1):58-64.
- DOI: 10.1111/j.1399-0004.2005.00545.x
- 13. Biesecker LG. The end of the beginning of chromosome ends. Am J Med Genet. 2002 Feb 1;107(4):263-6.
- DOI: 10.1002/ajmg.10160 DOI: 10.1002/ajmg.10160. abs
- 14. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, et al. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet. 2006
- Jun;43(6):478-89. DOI: 10.1136/jmg.2005.036350
- 15. Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, et al. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet. 2004
- Dec;41(12):892-9. DOI: 10.1136/jmg.2004.023671
- 16. Ahn JW, Ogilvie CM, Welch A, Thomas H, Madula R, Hills A, et al. Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet. 2007;8:9. DOI: 10.1186/1471-2350-8-9
- 17. Ahn JW, Mann K, Docherty Z, Mackie Ogilvie C. Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis.
- Mol Cytogenet. 2008;1:2. DOI: 10.1186/1755-8166-1-2
- 18. Stegmann AP, Jonker LM, Engelen JJ. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements. Eur J Med Genet. 2008 Mar- Apr;51(2):93-105. DOI: 10.1016/j.ejmg.2007.10.003
- 19. Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, et al. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. BMC Med Genet. 2010;11:72. DOI: 10.1186/1471-2350-11-72
- 20. Medina A, Pineros L, Arteaga C, Velasco H, Izquierdo A, Giraldo A, et al. Multiplex ligation-dependent probe amplification to subtelomeric rearrangements in idiopathic intellectual disability in Colombia. Pediatr Neurol. 2014 Mar;50(3):250-4. DOI: 10.1016/j.pediatrneurol.
- 2013.10.017
- 21. Mundhofir FE, Nillesen WM, Van Bon BW, Smeets D, Pfundt R, van de Ven-Schobers G, et al. Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study. Indian J Hum Genet. 2013 Apr;19(2):171-8. DOI: 10.4103/0971-6866.116118
- 22. Pohovski LM, Dumic KK, Odak L, Barisic I. Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability. Mol Cytogenet. 2013;6(1):7. DOI: 10.1186/1755-8166-6-7
- 23. Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, et al. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet. 2009 Jul-Aug;52(4):161-9. DOI: 10.1016/j. ejmg.2009.03.015
- 24. Kriek M, Knijnenburg J, White SJ, Rosenberg C, den Dunnen JT, van Ommen GJ, et al. Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.
- Am J Med Genet A. 2007 Mar 15;143(6):610-4. DOI: 10.1002/ajmg.a.31593
Language: English
Page range: 157 - 164
Submitted on: Apr 4, 2014
Accepted on: May 18, 2014
Published on: Jun 21, 2014
Published by: Romanian Association of Laboratory Medicine
In partnership with: Paradigm Publishing Services
Publication frequency: 4 times per year
Related subjects:
© 2014 Adriana Sireteanu, Roxana Popescu, Elena Emanuela Braha, Cornel Bujoran, Lăcrămioara Butnariu, Lavinia Caba, Elena Graur, Eusebiu Vlad Gorduza, Mihaela Grămescu, Iuliu Cristian Ivanov, Monica Pânzaru, Cristina Rusu, published by Romanian Association of Laboratory Medicine
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.