FISH Diagnosis of 22q11.2 Deletion Syndrome

Newborn and Infant Nursing Reviews

Volumn 8, Issue 1, 2008, Pages

  Miller, Kimberley A ^a  

^a BAYLOR UNIVERSITY   (United States)

Author keywords

22q11.2, 22q; CATCH 22; Conotruncal anomaly face syndrome (CAFS, CTAF); DiGeorge syndrome (DGS); FISH; Fluorescence in situ hybridization; Microdeletion; Velocardiofacial syndrome (VCFS)

Indexed keywords

EID: 39049137050     PISSN: 15273369     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.nainr.2007.12.006     Document Type: Article

References (60)

1. Botto L.D., May K., Fernhoff P.M., et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112 (2003) 101-107
2. Burke W. Genetic testing. N Engl J Med 347 (2002) 1867-1875
3. Carlson C., Sirotkin H., and Pandita R. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61 (1997) 620-629
4. Crifasi P.A., Michels V.V., Driscoll D.J., et al. DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes. Mayo Clin Proc 70 (1995) 1148-1153
5. Donnenfeld A.E., Cutillo D., Horwitz J., and Knops J. Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency. Am J Obstet Gynecol 194 (2006) 508-511
6. Edelmann L., Pandita R.K., Spiteri E., et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8 (1999) 1157-1167
7. Fokstuen S., Arbenz U., Artan S., et al. 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet 53 (1998) 63-69
8. Genetics home reference: your guide to understanding genetic conditions (22q11.2 deletion syndrome) (2006). http://ghr.nlm.nih.gov/condition=22q12deletionsyndrome [Retrieved June 17, 2006]
9. Goldmuntz E., and Emanuel B.S. Genetic disorders of cardiac morphogenesis: the DiGeorge and velocardiofacial syndromes. Circ Res 80 (1997) 437-443
10. Gong W., Emanuel B.S., Collins J., et al. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet 5 (1996) 789-800
11. Katzman P.J., Wang B., Sawhney M., and Wang N. Differential detection of deletion 22q11.2 syndrome by specialty and indication. Pediatr Dev Pathol 8 (2005) 557-567
12. Larson R.S., and Butler M.G. Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases. Diagn Mol Pathol 4 (1995) 274-278
13. Levy-Mozziconacci A., Piquet C., Heurtevin P., and Philip N. Prenatal diagnosis of 22q11 microdeletion. Prenat Diagn 17 (1997) 1033-1037
14. Lindsay E.A., Rizzu P., Antonacci R., et al. A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics 32 (1996) 104-112
15. McDonald-McGinn D.M., Emanuel B.S., and Zackai E.H. 22q11.2 deletion syndrome (2005). (Original work published 1999) Available at: www.geneclinics.org [Retrieved June 17, 2006]
16. McDonald-McGinn D.M., Tonnesen M.K., Laufer-Cahana A., et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net. Genet Med 3 (2001) 23-29
17. Moore J.W., Binder G.A., and Berry R. Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. Am J Obstet Gynecol 191 (2004) 2068-2073
18. Portnoi M., Lebas F., Gruchy N., et al. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet 137A (2005) 47-51
19. Robin N.H., and Shprintzen R.J. Defining the clinical spectrum of deletion 22q11.2. J Pediatr 147 (2005) 90-96
20. Saitta S.C., Harris S.E., Gaeth A.P., et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet 13 (2004) 417-428
21. Shooner K.A., Rope A.F., Hopkin R.J., et al. Genetic analyses in two extended families with deletion of 22q11 syndrome: importance of extracardiac manifestations. J Pediatr 146 (2005) 382-387
22. Thomas J.A., and Graham Jr. J.M. Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr 36 (1997) 253-266
23. Towbin J.A., Casey B., and Belmont J. Human genetics '99: the cardiovascular system (the molecular basis of vascular disorders). Am J Hum Genet 64 (1999) 678-684
24. Tsui K.M., Ng Y.Y., Yu W.L., and Lam T.S. The use of fluorescence in situ hybridization in the diagnosis of DiGeorge anomaly. Hong Kong Med J 1 (1995) 263-265
25. Yakut T., Kilic S.S., Cil E., et al. FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities. Pediatr Surg Int 22 (2006) 380-383
26. Desmaze C., Scambler P., Prieur M., et al. Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. Hum Genet 90 (1993) 663-665
27. Driscoll D.A., Budarf M.L., and Emanuel B.S. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 50 (1992) 924-933
28. Driscoll D.A., Salvink J., Sellinger B., et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 30 (1993) 813-817
29. Iwarsson E., Ahrlund-Richter L., Inzunza J., et al. Preimplantation genetic diagnosis of DiGeorge syndrome. Mol Hum Reprod 4 (1998) 871-875
30. Jaquez M., Driscoll D.A., and Li M. Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. Am J Med Genet 70 (1997) 6-10
31. Levy-Mozziconacci A., Wernert F., Scambler P., et al. Clinical and molecular study of DiGeorge sequence. Eur J Pediatr 153 (1994) 813-820
32. Fernandez L., Lapunzina P., Arjona D., et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet 68 (2005) 373-378
33. Rauch A., Zink S., Zweier C., et al. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet 42 (2005) 871-876
34. Levy A., Demczuk S., Aurias A., et al. Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet (1995) 2417-2419
35. McQuade L., Christodoulou J., Budarf M., et al. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet 86 (1999) 27-33
36. O'Donnell H., McKeown C., Gould C., et al. Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am J Hum Genet 60 (1997) 1544-1548
37. Ligon A.H., Beaudet A.L., and Shaffer L.G. Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. Am J Hum Genet 61 (1997) 51-59
38. Weksberg R., Hughes S., Moldovan L., et al. A method for accurate detection of genomic microdeletions using real-time quantitative PCR. BMC Genomics 6 (2005) 1-10
39. DeBerardinis R.J., Medne L., Spinner N.B., and Zackai E.H. DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. Am J Med Genet 138A (2005) 155-159
40. Goldmuntz E., Driscoll D., Budarf M.L., et al. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30 (1993) 807-812
41. Perez E., and Sullivan K.E. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 14 (2002) 678-683
42. Matsuoka R., Kimura M., Scambler P.J., et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet (1998) 70-80
43. Moeschler J.B., Shevell M., and and the Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117 (2006) 2304-2316
44. Carter N.P. Fluorescence in situ hybridization: state of the art. Bioimaging 4 (1996) 41-51
45. Hoovers J.M. Fluorescence in situ hybridization in the study of chromosomal abnormalities. [Article in Dutch]. Ned Tijdschr Geneeskd 143 (1999) 2265-2268
46. Raff R., and Schwanitz G. Fluorescence in situ hybridization: general principles and clinical application with special emphasis to interphase diagnostics. Indian J Hum Genet 1 (2001) 65-75
47. Waters J.J. Demystified...FISH. J Clin Pathol Mol Pathol 51 (1998) 62-70
48. Oostlander A.E., Meijer G.A., and Ylstra B. Microarray-based comparative genomic hybridization and its applications in human genetics. Clin Genet 66 (2004) 488-495
49. Driscoll D.A. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 3 (2001) 14-18
50. Assche E.V., Staessen C., Vegetti W., et al. Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22). Mol Hum Reprod 5 (1999) 682-690
51. Sermon K., Van Steirteghem A., and Liebaers I. Preimplantation genetic diagnosis. Lancet 363 (2004) 1633-1641
52. Jalal S.M., Law M.E., Carlson R.O., and Dewald G.W. Prenatal detection of aneuploidy by directly labeled multicolored probes and interphase fluorescence in situ hybridization. Mayo Clin Proc 73 (1998) 132-137
53. Miranda R.N., Mark H.F., and Medeiros L.J. Fluorescent in situ hybridization in routinely processed bone marrow aspirate clot and core biopsy sections. Am J Pathol 145 (1994) 1309-1314
54. Rickman L., Fiegler H., Shaw-Smith C., et al. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet 43 (2006) 353-361
55. Berend S.A., Spikes A.S., Kashork C.D., et al. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. Am J Med Genet 91 (2000) 313-317
56. Demczuk S., Desmaze C., Aikem M., et al. Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Ann Genet 37 (1994) 60-65
57. Le Caignec C., Boceno M., Saugier-Veber P., et al. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet 42 (2005) 121-128
58. Schoumans J., Ruivenkamp C., Holmber E., et al. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42 (2005) 699-705
59. Emanuel B.S., McDonald-McGinn D., Saitta S.D., and Zackai E.H. The 22q11.2 deletion syndrome. Adv Pediatr 48 (2001) 39-73
60. Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med 51 (2002) 77-88