Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Yang, Chen ^a   Huang, Cheng Hung ^b,c   Cheong, Mei Leng ^b   Hung, Kun Long ^b,d   Lin, Lung Huang ^b,d   Yu, Yeong Seng ^b   Chien, Chih Cheng ^b,d   Huang, Huei Chen ^e   Chen, Chan Wei ^b   Huang, Chi Jung ^b,d  

^a TAIPEI MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CATHAY GENERAL HOSPITAL   (Taiwan)

^c TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^d FU JEN CATHOLIC UNIVERSITY   (Taiwan)

^e CHENG HSIN REHABILITATION MEDICAL CENTER   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PRIMER DNA;

ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; FEMALE; GENE DOSAGE; GENETIC MARKER; GENETIC VARIABILITY; HUMAN; MALE; MICROARRAY ANALYSIS; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; REAL TIME POLYMERASE CHAIN REACTION; TAIWAN; CHROMOSOME 22; CONGENITAL HEART MALFORMATION; GENETICS; HUMAN GENOME; INFANT; LIGASE CHAIN REACTION; MULTIPLE MALFORMATION SYNDROME; NEWBORN; POLYMERASE CHAIN REACTION; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DNA PRIMERS; FEMALE; GENETIC MARKERS; GENOME, HUMAN; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; LIGASE CHAIN REACTION; MALE; POLYMERASE CHAIN REACTION; SYNDROME; TAIWAN;

EID: 62349084378     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-16     Document Type: Article

References (39)

1. Schinke M Izumo S Deconstructing DiGeorge syndrome Nat Genet 2001, 27(3):238-40 10.1038/85784 11242098
2. Lu JH Chung MY Hwang B Chien HP Prevalence and parental origin in Tetralogy of Fallot associated with chromosome 22q11 microdeletion Pediatrics 1999, 104(1 Pt 1):87-90 10.1542/peds.104.1.87 10390265
3. Khositseth A Tocharoentanaphol C Khowsathit P Ruangdaraganon N Chromosome 22q11 deletions in patients with conotruncal heart defects Pediatr Cardiol 2005, 26(5):570-3 10.1007/s00246-004-0775-5 16132309
4. Ben-Shachar S Ou Z Shaw CA Belmont JW Patel MS Hummel M Amato S Tartaglia N Berg J Sutton VR Lalani SR Chinault AC Cheung SW Lupski JR Patel A 22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome Am J Hum Genet 2008, 82(1):214-21 2253964 18179902 10.1016/j.ajhg.2007.09.014
5. Kessler-Icekson G Birk E Weintraub AY Barhum Y Kotlyar V Schlesinger H Rockah R Vidne BA Frisch A Association of tetralogy of Fallot with a distinct region of del22q11.2 Am J Med Genet 2002, 107(4):294-8 10.1002/ ajmg.10166 11840485
6. Antshel KM Kates WR Roizen N Fremont W Shprintzen RJ 22q11.2 deletion syndrome: Genetics, neuroanatomy and cognitive/behavioral features keywords Child Neuropsychol 2005, 11(1):5-19 10.1080/09297040590911185 15823980
7. Bonnet D Cormier-Daire V Kachaner J Szezepanski I Souillard P Sidi D Munnich A Lyonnet S Microsatellite DNA markers detects 95% of chromosome 22q11 deletions Am J Med Genet 1997, 68(2):182-4 10.1002/ (SICI)1096-8628(19970120)68:2<182::AID-AJMG12>3.0.CO;2-Q 9028455
8. Liling J Cross I Burn J Daniel CP Tawn EJ Parker L Frequency and predictive value of 22q11 deletion J Med Genet 1999, 36(10):794-5 1734235 10528864
9. Portnoï MF Lebas F Gruchy N Ardalan A Biran-Mucignat V Malan V Finkel L Roger G Ducrocq S Gold F Taillemite JL Marlin S 22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes Am J Med Genet A 2005, 137(1):47-51 16007629
10. Saitta SC Harris SE Gaeth AP Driscoll DA McDonald-McGinn DM Maisenbacher MK Yersak JM Chakraborty PK Hacker AM Zackai EH Ashley T Emanuel BS Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion Hum Mol Genet 2004, 13(4):417-28 10.1093/hmg/ddh041 14681306
11. Carlson C Sirotkin H Pandita R Goldberg R McKie J Wadey R Patanjali SR Weissman SM Anyane-Yeboa K Warburton D Scambler P Shprintzen R Kucherlapati R Morrow BE Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients Am J Hum Genet 1997, 61(3):620-9 1715959 9326327 10.1086/515508
12. Weksberg R Hughes S Moldovan L Bassett AS Chow EW Squire JA A method for accurate detection of genomic microdeletions using real-time quantitative PCR BMC Genomics 2005, 6:180 1327677 16351727 10.1186/ 1471-2164-6-180
13. de Bustos C Díaz de Ståhl T Piotrowski A Mantripragada KK Buckley PG Darai E Hansson CM Grigelionis G Menzel U Dumanski JP Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH Genomics 2006, 88(2):152-62 10.1016/ j.ygeno.2006.03.016 16713171
14. Fernández L Lapunzina P Arjona D López Pajares I García-Guereta L Elorza D Burgueros M De Torres ML Mori MA Palomares M García-Alix A Delicado A Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome Clin Genet 2005, 68(4):373-8 10.1111/ j.1399-0004.2005.00493.x 16143025
15. Ensenauer RE Adeyinka A Flynn HC Michels VV Lindor NM Dawson DB Thorland EC Lorentz CP Goldstein JL McDonald MT Smith WE Simon-Fayard E Alexander AA Kulharya AS Ketterling RP Clark RD Jalal SM Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients Am J Hum Genet 2003, 73(5):1027-40 1180483 14526392 10.1086/378818
16. Sivertsen A Lie RT Wilcox AJ Abyholm F Vindenes H Haukanes BI Houge G Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate Am J Med Genet A 2007, 143(2):129-34 17163526
17. Huang JS Huang CJ Chen SK Chien CC Chen CW Lin CM Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease Eur J Clin Invest 2007, 37(6):492-500 10.1111/ j.1365-2362.2007.01806.x 17537157
18. Bender BU Gutsche M Glasker S Muller B Kirste G Eng C Neumann HP Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas J Clin Endocrinol Metab 2000, 85(12):4568-74 10.1210/jc.85.12.4568 11134110
19. Scarciolla O Stuppia L De Angelis MV Murru S Palka C Giuliani R Pace M Di Muzio A Torrente I Morella A Grammatico P Giacanelli M Rosatelli MC Uncini A Dallapiccola B Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification Neurogenetics 2006, 7(4):269-76 10.1007/s10048-006-0051-3 16865356
20. Chen YF Kou PL Tsai SJ Chen KF Chan HH Chen CM Sun HS Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: Application to the development of quantitative real-time PCR assay for clinical diagnosis Genomics 2006, 87(2):290-7 10.1016/ j.ygeno.2005.10.002 16307865
21. Steinmann K Kluwe L Cooper DN Brems H De Raedt T Legius E Mautner VF Kehrer-Sawatzki H Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions Eur J Hum Genet 2008, 16(5):572-80 10.1038/sj.ejhg.5202002 18212816
22. Ratajska M Brozek I Senkus-Konefka E Jassem J Stepnowska M Palomba G Pisano M Casula M Palmieri G Borg A Limon J BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland Oncol Rep 2008, 19(1):263-8 18097605
23. Scarciolla O Brancati F Valente EM Ferraris A De Angelis MV Valbonesi S Garavaglia B Uncini A Palka G Stuppia L Dallapiccola B Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements Mov Disord 2007, 22(15):2274-8 10.1002/mds.21532 17914726
24. Kriek M Szuhai K Kant SG White SJ Dauwerse H Fiegler H Carter NP Knijnenburg J den Dunnen JT Tanke HJ Breuning MH Rosenberg C A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance Hum Genet 2006, 120(1):77-84 10.1007/s00439-006-0185-2 16708226
25. McDermid HE Morrow BE Genomic disorders on 22q11 Am J Hum Genet 2002, 70(5):1077-88 447586 11925570 10.1086/340363
26. Stoll C Garne E Clementi M Group ES Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe Prenat Diagn 2001, 21(4):243-52 10.1002/pd.34 11288111
27. Jiang L Duan C Chen B Hou Z Chen Z Li Y Huan Y Wu KK Association of 22q11 deletion with isolated congenital heart disease in three Chinese ethnic groups Int J Cardiol 2005, 105(2):216-23 10.1016/ j.ijcard.2005.01.012 16243116
28. Stachon AC Baskin B Smith AC Shugar A Cytrynbaum C Fishman L Mendoza-Londono R Klatt R Teebi A Ray PN Weksberg R Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification Am J Med Genet A 2007, 143A(24):2924-2930 18000985 10.1002/ajmg.a.32101
29. Jalali GR Vorstman JA Errami A Vijzelaar R Biegel J Shaikh T Emanuel BS Detailed analysis of 22q11.2 with a high density MLPA probe set Hum Mutat 2008, 29(3):433-40 10.1002/humu.20640 18033723
30. Konen O Armstrong D Clarke H Padfield N Weksberg R Blaser S Detailed analysis of 22q11.2 with a high density MLPA probe set Pediatr Radiol 2008, 38(7):766-71 10.1007/s00247-008-0903-0 18516601
31. Rauch A Zink S Zweier C Thiel CT Koch A Rauch R Lascorz J Hüffmeier U Weyand M Singer H Hofbeck M Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2 J Med Genet 2005, 42(11):871-6 1735953 15831592 10.1136/jmg.2004.030619
32. Uddin RK Zhang Y Siu VM Fan YS O'Reilly RL Rao J Singh SM Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions BMC Med Genet 2006, 7:18 1413517 16512914 10.1186/1471-2350-7-18
33. 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, 50(1):33-42 10.1016/j.ejmg.2006.10.002 17090394
34. Yu S Cox K Friend K Smith S Buchheim R Bain S Liebelt J Thompson E Bratkovic D Familial 22q11.2 duplication: A three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication Clin Genet 2008, 73(2):160-4 10.1111/j.1399-0004.2007.00938.x 18076674
35. Sperandeo MP Borsani G Incerti B Zollo M Rossi E Zuffardi O Castaldo P Taglialatela M Andria G Sebastio G The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome Genomics 1998, 49(2):230-6 10.1006/ geno.1998.5252 9598310
36. Kallioniemi A Kallioniemi OP Sudar D Rutovitz D Gray JW Waldman F Pinkel D Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors Science 1992, 258(5083):818-21 10.1126/science.1359641 1359641
37. Thuresson AC Bondeson ML Edeby C Ellis P Langford C Dumanski JP Annerén G Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation Cytogenet Genome Res 2007, 118(1):1-7 10.1159/000106434 17901693
38. Erickson RP de Ståhl TD Bruder CE Dumanski JP A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients Am J Med Genet A 2007, 143A(24):3302-3308 18000907 10.1002/ajmg.a.32025
39. Shaikh TH Kurahashi H Saitta SC O'Hare AM Hu P Roe BA Driscoll DA McDonald-McGinn DM Zackai EH Budarf ML Emanuel BS Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis Hum Mol Genet 2000, 9(4):489-501 10.1093/ hmg/9.4.489 10699172