Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect

1. Osoegawa K, Iovannisci DM, Lin B, Parodi C, Schultz K, Shaw GM, et al. Identification of Novel Candidate Gene Loci and Increased Sex Chromosome Aneuploidy among Infants with Conotruncal Heart Defects. Am J Med Genet A. 2014 Feb;0(2):397–406. DOI: 10.1002/ajmg.a.3629110.1002/ajmg.a.36291394691524127225Search in Google Scholar

2. Bernstein D. Epidemiology and genetic basis of congenital heart disease. Kliegman R, Stanton B, St Geme JW, Schor NF, Behrman RE, Nelson Textbook of Pediatrics, Philadelphia, 2016, pps 2182-2187.Search in Google Scholar

3. Murray LE, Smith AH, Flack EC, Crum K, Owen J, Kannankeril PJ. Genotypic and phenotypic predictors of complete heart block and recovery of conduction after surgical repair of congenital heart disease. Heart Rhythm. 2017 Mar;14(3):402-9. DOI: 10.1016/j.hrthm.2016.11.01010.1016/j.hrthm.2016.11.010534574727826129Open DOISearch in Google Scholar

4. Muntean I, Şuteu C, Togănel R, Bănescu C. Association between MDR1 gene polymorphism and clinical course of pediatric pulmonary arterial hypertension. Rev Romana Med Lab. 2018;26(3):305-12. DOI: 10.2478/rrlm-2018-002510.2478/rrlm-2018-0025Open DOISearch in Google Scholar

5. Cowan JR, Ware SM. Genetics and genetic testing in congenital heart disease. Clin Perinatol. 2015 Jun;42(2):373-93. DOI: 10.1016/j.clp.2015.02.00910.1016/j.clp.2015.02.00926042910Open DOISearch in Google Scholar

6. Gelb BD, Chung WK. Complex Genetics and the Etiology of Human Congenital Heart Disease. Cold Spring Harb Perspect Med. 2014 Jul;4:a013953. DOI: 10.1101/cshperspect.a01395310.1101/cshperspect.a013953406663824985128Open DOISearch in Google Scholar

7. Soares G, Alvares S, Rocha C, Teixeira MF, Mota MC, Reis MI, et al. Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22). Rev Port Cardiol. 2005 Mar;24(3):349-71.Search in Google Scholar

8. Rachel S, Ian JW, Jamie B, Rebecca D, Ana T, Diana Z, et al. Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease. Am J Hum Genet. 2012 September;91(3):489-501. DOI: 10.1016/j.ajhg.2012.08.00310.1016/j.ajhg.2012.08.003351198622939634Search in Google Scholar

9. Pânzaru M, Rusu C, Voloşciuc M, Braha E, Butnariu L, Gramescu M, et al. Benefits of cytogenetic testing in diagnosis of plurimalformative syndromes with congenital heart defects. Rev Romana Med Lab. 2012;20(3):265-72.Search in Google Scholar

10. Monteiro RAC, Freitas ML, Vianna GS, de Oliveira VT, Pietra RX, Ferreira LCA, et al. Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test. Mol Syndromol. 2017 Aug;8:227–35. DOI: 10.1159/00047722610.1159/000477226558252128878606Search in Google Scholar

11. Lander J, Ware SM. Copy Number Variation in Congenital Heart Defects. Curr Genet Med Rep. 2014;2(3):168–78. DOI: 10.1007/s40142-014-0049-310.1007/s40142-014-0049-3Open DOISearch in Google Scholar

12. Karen RS, Rafaella M, Janaina H, Lucia CP, Mariluce R. Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects. Biomed Res Int. 2015; 2015:401941.10.1155/2015/401941Search in Google Scholar

13. 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;30(12):e57. DOI: 10.1093/nar/gnf05610.1093/nar/gnf05611729912060695Open DOISearch in Google Scholar

14. Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet. 2008 Aug;124(1):1-17. DOI: 10.1007/s00439-008-0513-910.1007/s00439-008-0513-918512078Open DOISearch in Google Scholar

15. Sireteanu A, Popescu R, Braha EE, Bujoran C, Butnariu L, Caba L, et al. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability. Rev Romana Med Lab. 2014;22(2):157-64. DOI: 10.2478/rrlm-2014-001910.2478/rrlm-2014-0019Open DOISearch in Google Scholar

16. Lam AC, Lam ST, Lai KK, Tong TM, Chau TC. High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation. Clin Biochem. 2006 Feb;39(3):196-202. DOI: 10.1016/j.clinbiochem.2006.01.00310.1016/j.clinbiochem.2006.01.00316497288Open DOISearch in Google Scholar

17. Zou PS, Li HZ, Chen LS, Ma M, Chen XH, Xue D, et al. A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21. Genetic and Molecular Research. 2016;15(2):gmr15028140. DOI: 10.4238/gmr.1502814010.4238/gmr.1502814027173335Search in Google Scholar

18. Liehr T, Chapter 5 Small Supernumerary Marker Chromosomes known to be correlated with specific syndromes, Small Supernumerary Marker Chromosomes (sSMC), Springer-Verlag Berlin Heidelberg, 2012, pp 47-52. DOI: 10.1007/978-3-642-20766-2_510.1007/978-3-642-20766-2_5Open DOISearch in Google Scholar

19. Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, et al. Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?. Mol Cytogenet. 2008 Apr;1:6. DOI: 10.1186/1755-8166-1-610.1186/1755-8166-1-6237588118471318Open DOISearch in Google Scholar

20. Sadek AA, Ashry MM. Yield of karyotyping in children with developmental delay and/or dysmorphic features in Sohag University Hospital, Upper Egypt. Egyptian J Med Hum Genet. 2018;19(3):253-9. DOI: 10.1016/j.ejmhg.2017.12.00710.1016/j.ejmhg.2017.12.007Open DOISearch in Google Scholar

21. Hochstenbach R, Nowakowska B, Volleth M, Ummels A, Kutkowska-Kaźmierczak A, Obersztyn E, et al. Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors. Mol Syndromol. 2016 Feb;5(6):210–21.10.1159/000441408477261826997941Search in Google Scholar

22. Jehee FS, Takamori JT, Vasconcelos MPF, 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;54:425-32. DOI: 10.1016/j.ejmg.2011.03.00710.1016/j.ejmg.2011.03.00721457803Open DOISearch in Google Scholar

23. Sørensen KM, El-Segaier M, Fernlund E, Errami A, Bouvagnet P, Nehme N, et al. Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients. Am J Med Genet A. 2012 Apr;158A(4):720-5. DOI: 10.1002/ajmg.a.3521410.1002/ajmg.a.3521422383218Open DOISearch in Google Scholar

24. Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008;51(6):501-10. DOI: 10.1016/j.ejmg.2008.07.00510.1016/j.ejmg.2008.07.00518707033Search in Google Scholar

25. Woori J, Hyojin C, Jiyeon K, Jung-Ok S, Seok CK, Bo Kyung K, et al. Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization, Mol Cytogenet. 2016;9:61. DOI: 10.1186/s13039-016-0273-510.1186/s13039-016-0273-5497786427508004Open DOISearch in Google Scholar