Abstract：OBJECTIVE: To investigate the clinical utility of multiplex ligation-dependent probe amplification (MLPA) for detecting 22q11 deletion and duplication in congenital heart disease (CHD) cases and to study the incidence of 22q11 deletion and duplicaton in different kinds of CHD. METHODS: Forty-eight probes of which 25 located in 22q11 low copy number region (LCR 22s A-H), 7 in 22q11 surrounding region (CES, 22q13) and 16 in chromosomes 4, 8, 10 and 17 were selected to detect 22q11 deletion and duplication in 181 preoperative children with CHD and 14 fetuses with serious CHD or CHD with multiple malformations. In these cases, karyotype analysis was also performed. RESULTS: MLPA demonstrated that 7 cases had 22q11 deletion ［6 cases from CLTCL1 to LZTR1(LCR A-D) and 1 case from CLTCL1 to PCQAP (LCR A-C)］ and that 1 case had 22q11 duplication，spanning from ZNF74 to LZTR1(LCR B-D). The phenotypes of heart defect included ventricular septal defect, atrioventricular septal defect, pulmonary stenosis and tetralogy of Fallot. Karyotype analysis showed that 1 case had 21q deletion ［46, XY, 21q］, 1 case had mosaic trisomy 8 ［ 47,XY,+8/46, XY(1∶2)］ and 4 cases had trisomy 21. One of the 4 cases with trisomy 21 had concurrent 22q11 duplication. CONCLUSIONS: MLPA is a rapid, sensitive, site-specific and relatively inexpensive method for diagnosis of 22q11 deletion and duplication in CHD. 22q11 deletion and duplication may cause various kinds of CHD, suggesting that genetic detection should be performed routinely in CHD patients.［Chin J Contemp Pediatr, 2009, 11 (11):892-896］
YANG Yue-Hua,HU Ya-Li,ZHU Xiang-Yu et al. Diagnosis of 22q11 deletion and duplication in congenital heart disease by multiplex ligation-dependent probe amplification[J]. CJCP, 2009, 11(12): 892-896.
［1］Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population［J］. Pediatrics, 2003, 112（1 Pt 1）：101-107.
［2］Kyburz A, Bauersfeld U, Schinzel A, Riegel M, Hug M, Tomaske M, et al.The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect：clinical course and cardiac outcome［J］. Pediatr Cardiol, 2008, 29(1)：76-83.
［3］Park IS, Ko JK, Kim YH, Yoo HW, Seo EJ, Choi JY, et al. Cardiovascular anomalies in patients with chromosome 22q11.2 deletion：a Korean multicenter study［J］. Int J Cardiol, 2007, 114 (2)：230-235.
［7］Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, et al. Detailed analysis of 22q11.2 with a high density MLPA probe set［J］. Hum Mutat, 2008, 29(3)：433-440.
［8］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［J］. Nucleic Acids Res, 2002, 30(12)：e57.
［9］Fernández L, Lapunzina P, Arjona D, López Pajares I, García-Guereta L, Elorza D, et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q 11.2 deletion syndrome［J］. Clin Genet, 2005, 68(4)：373-378.
［10］Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, et al. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification［J］. Am J Med Genet A, 2007,143A(24)：2924-2930.
［12］Courtens W, Schramme I, Laridon A. Microduplication 22q11.2：a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families［J］. Am J Med Genet A, 2008, 146A(6)：758-763.
