Phenotypic variability of distal 22q11.2 copy number abnormalities

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1623-1633

  Tan, Tiong Yang ^a,b,c,d   Collins, Amanda ^e   James, Paul A ^a,b   Mcgillivray, George ^a,b   Stark, Zornitza ^a,b   Gordon, Christopher T ^b   Leventer, Richard J ^b,c,d   Pope, Kate ^b   Forbes, Robin ^a,b   Crolla, John A ^f   Ganesamoorthy, Devika ^a,b   Burgess, Trent ^a,b   Bruno, Damien L ^a,b   Slater, Howard R ^a,b,c   Farlie, Peter G ^b,c   Amor, David J ^a,b,c,d  

^a Genetic Health Services Victoria   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e PRINCESS ANNE HOSPITAL   (United Kingdom)

^f SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

22q11.2; Congenital heart disease; Goldenhar syndrome; Microarray; Microdeletion; Microduplication; Mullerian defects; Oculo auriculo vertebral spectrum; Polymicrogyria

Indexed keywords

DNA;

ARTICLE; CHILD; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 22Q11.2; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONGENITAL DIAPHRAGM HERNIA; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GOLDENHAR SYNDROME; HUMAN; HUMAN CELL; MALE; MICROGYRIA; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCHOOL CHILD; UTERUS DIDELPHYS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC ASSOCIATION STUDIES; GOLDENHAR SYNDROME; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; REPETITIVE SEQUENCES, NUCLEIC ACID; YOUNG ADULT;

EID: 79959534034     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34051     Document Type: Article

References (68)

1. Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent LC, De Moor B, Marynen P, Hassan B, Carmeliet P, Moreau Y. 2006. Gene prioritization through genomic data fusion. Nat Biotechnol 24: 537-544.
2. Alberti A, Romano C, Falco M, Cali F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. 2007. 1.5Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet 71: 177-182.
3. Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B. 1999. Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet 7: 903-909.
4. Balci S, Engiz O, Yilmaz Z, Baltaci V. 2006. Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22). Genet Couns 17: 281-289.
5. 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. 2008. 22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 82: 214-221.
6. Bergmann C, Zerres K, Peschgens T, Senderek J, Hornchen H, Rudnik-Schoneborn S. 2003. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Am J Med Genet Part A 121A: 151-155.
7. Blyth M, Huang S, Maloney V, Crolla JA, Karen Temple I. 2008. A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'. Eur J Med Genet 51: 672-678.
8. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. 2008. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40: 1466-1471.
9. Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. 2009. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet 46: 123-131.
10. Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE. 2003. Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 53: 596-606.
11. Chen JF, Huang Z, Ma J, Zhu J, Moratalla R, Standaert D, Moskowitz MA, Fink JS, Schwarzschild MA. 1999. A(2A) adenosine receptor deficiency attenuates brain injury induced by transient focal ischemia in mice. J Neurosci 19: 9192-9200.
12. Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonca BB, Szuhai K, Otto PA. 2006. Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet Part A 140A: 1339-1342.
13. Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somervile MJ. 2004. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res 94: 1429-1435.
14. Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. 2009. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet 18: 1377-1383.
15. Courtens W, Schramme I, Laridon A. 2008. Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?-Report of two families. Am J Med Genet Part A 146A: 758-763.
16. de La Rochebrochard C, Joly-Helas G, Goldenberg A, Durand I, Laquerriere A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A, de Kergal F, Tiercin C, Mace B, Marpeau L, Frebourg T. 2006. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet Part A 140A: 1608-1613.
17. De Smet L, Fryns JP. 2008. Unilateral radio-ulnar synostosis and idic-Y chromosome. Genet Couns 19: 425-427.
18. Descartes M, Franklin J, de Stahl TD, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM. 2008. Distal 22q11.2 microduplication encompassing the BCR gene. Am J Med Genet Part A 146A: 3075-3081.
19. Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. 1997. Chromosome 22q11 deletion presenting as the Potter sequence. J Med Genet 34: 423-425.
20. Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B. 2003. Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies. Clin Genet 63: 308-313.
21. Digilio MC, McDonald-McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, Zackai EH. 2009. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet Part A 149A: 2860-2864.
22. Edelmann L, Pandita RK, Morrow BE. 1999a. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64: 1076-1086.
23. Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE. 1999b. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8: 1157-1167.
24. 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. 2003. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73: 1027-1040.
25. Erdogan F, Larsen LA, Zhang L, Tumer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R. 2008. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet 45: 704-709.
26. Farlie P, Reid C, Wilcox S, Peeters J, Reed G, Newgreen D. 2001. Ypel1: A novel nuclear protein that induces an epithelial-like morphology in fibroblasts. Genes Cells 6: 619-629.
27. Fernandez L, Nevado J, Santos F, Heine-Suner D, Martinez-Glez V, Garcia-Minaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P. 2009. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet 10: 48.
28. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. 2010. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42: 203-209.
29. Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. 2000. Bilateral frontal polymicrogyria: A newly recognized brain malformation syndrome. Neurology 54: 909-913.
30. Haldar A, Sharma AK, Phadke SR, Jain A, Agarwal SS. 1994. OEIS complex with craniofacial anomalies-Defect of blastogenesis? Am J Med Genet 53: 21-23.
31. Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. 2009. Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 46: 223-232.
32. Hathout EH, Elmendorf E, Bartley J. 1998. Hemifacial microsomia and abnormal chromosome 22. Am J Med Genet 76: 71-73.
33. Herman GE, Greenberg F, Ledbetter DH. 1988. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). Am J Med Genet 29: 909-915.
34. Hu Y, Zhu X, Yang Y, Mo X, Sheng M, Yao J, Wang D. 2009. Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery. Cardiol Young 19: 179-184.
35. Jackson EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel JA. 2007. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet 122: 117-127.
36. Kallen K, Robert E, Castilla EE, Mastroiacovo P, Kallen B. 2004. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). Am J Med Genet Part A 127A: 26-34.
37. Kuzniecky R, Andermann F, Guerrini R. 1993. Congenital bilateral perisylvian syndrome: Study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet 341: 608-612.
38. Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP. 2009. Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Am J Med Genet Part A 149A: 2855-2859.
39. Lichter P, Cremer T. 1992. Chromosome analysis by nonisotopic in situ hybridization. In: Rooney E, Czepulkowski BH, editors. Human cytogenetics: A practical approach. Oxford: IRL Press. pp 157-192.
40. McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. 1999. The Philadelphia story: The 22q11.2 deletion: Report on 250 patients. Genet Couns 10: 11-24.
41. Meechan DW, Tucker ES, Maynard TM, LaMantia AS. 2009. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci USA 106: 16434-16445.
42. 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 EM, 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, Lo Giudice, M, 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 MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chenl C, Estivil X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. 2008. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359: 1685-1699.
43. Mikhail FM, Descartes M, Piotrowski A, Andersson R, de Stahl TD, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ. 2007. A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet Part A 143A: 2178-2184.
44. Mosca AL, Callier P, Faivre L, Marle N, Mejean N, Thauvin-Robinet C, Masurel-Paulet A, Madinier N, Durand C, Couillaud G, Ragot S, Huet F, Teyssier JR, Mugneret F. 2009. Polymicrogyria in a child with inv dup del and (9p) 22q11.2 microduplication. Am J Med Genet Part A 149A: 475-481.
45. Newbern J, Zhong J, Wickramasinghe RS, Li X, Wu Y, Samuels I, Cherosky N, Karlo JC, O'Loughlin B, Wikenheiser J, Gargesha M, Doughman YQ, Charron J, Ginty DD, Watanabe M, Saitta SC, Snider WD, Landreth GE. 2008. Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development. Proc Natl Acad Sci USA 105: 17115-17120.
46. Ogilvie CM, Ahn JW, Mann K, Roberts RG, Flinter F. 2009. A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: A case report. Mol Cytogenet 2: 9.
47. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. 2008. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10: 267-277.
48. Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA. 2004. G protein-coupled receptor-dependent development of human frontal cortex. Science 303: 2033-2036.
49. Rauch A, Pfeiffer RA, Leipold G, Singer H, Tigges M, Hofbeck M. 1999. A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet 64: 659-666.
50. Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Huffmeier U, Weyand M, Singer H, Hofbeck M. 2005. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet 42: 871-876.
51. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. 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 43: 478-489.
52. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444: 444-454.
53. Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. 2006. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation. Am J Med Genet Part A 140A: 2416-2425.
54. Rodningen OK, Prescott T, Eriksson AS, Rosby O. 2008. 1.4 Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype. Eur J Med Genet 51: 646-650.
55. Rooryck C, Souakri N, Cailley D, Bouron J, Goizet C, Delrue MA, Marlin S, Lacombe FD, Arveiler B. 2010. Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. Am J Med Genet Part A 152A: 1984-1989.
56. Russell LJ, Weaver DD, Bull MJ. 1981. The axial mesodermal dysplasia spectrum. Pediatrics 67: 176-182.
57. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34: 798-804.
58. Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS. 1999. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet 65: 562-566.
59. Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. 2000. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum Mol Genet 9: 489-501.
60. Shaikh TH, Kurahashi H, Emanuel BS. 2001. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review. Genet Med 3: 6-13.
61. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. 2008. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40: 322-328.
62. Slater H, Bruno D, Ren H, La P, Burgess T, Hills L, Nouri S, Schouten J, Choo KH. 2004. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH method. Hum Mutat 24: 164-171.
63. Uliana V, Giordano N, Caselli R, Papa FT, Ariani F, Marcocci C, Gianetti E, Martini G, Papakostas P, Rollo F, Meloni I, Mari F, Priolo M, Renieri A, Nuti R. 2008. Expanding the phenotype of 22q11 deletion syndrome: The MURCS association. Clin Dysmorphol 17: 13-17.
64. van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. 2009. Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 46: 511-523.
65. Van Meter TD, Weaver DD. 1996. Oculo-auriculo-vertebral spectrum and the CHARGE association: Clinical evidence for a common pathogenetic mechanism. Clin Dysmorphol 5: 187-196.
66. Wieser R, Fritz B, Ullmann R, Muller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H. 2005. Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney. Hum Mutat 26: 78-83.
67. Xu J, Fan YS, Siu VM. 2008. A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome? Am J Med Genet Part A 146A: 1886-1889.
68. Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D. 2008. Familial 22q11.2 duplication: A three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin Genet 73: 160-164.