High-resolution array genomic hybridization in prenatal diagnosis

Prenatal Diagnosis

Volumn 29, Issue 1, 2009, Pages 20-28

  Friedman, J M ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONFERENCE PAPER; DNA MICROARRAY; DOWN SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETIC VARIABILITY; GENOME SIZE; HIGH RISK PREGNANCY; HUMAN; MATERNAL AGE; MICROARRAY ANALYSIS; PATIENT COUNSELING; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK BENEFIT ANALYSIS; TRISOMY 13; TRISOMY 18;

COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DOSAGE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 59449095097     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2129     Document Type: Conference Paper

References (91)

1. Alfi O, Donnell G, Allderdice P, Derencsenyi A. 1976. The 9p- syndrome. Ann Genet 19: 11-16.
2. American College of Obstetricians and Gynecologists. 2007. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 110: 1459-1467.
3. Ballif B, Rorem E, Sundin K, et al. 2006. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 140: 2757-2767.
4. Baross A, Delaney AD, Li HI, et al. 2007. Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data. BMC Bioinformatics 8: 368.
5. Bendavid C, Dubourg C, Gicquel I, et al. 2006. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet 119: 1-8.
6. Brooks E, Branda R, Nicklas J, O'Neill J. 2001. Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease. Mutat Res 476: 43-54.
7. Brunetti-Pierri N, Grange D, Ou Z, et al. 2007. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet 72: 411-419.
8. Bui T, Blennow E, Nordenskjöld M. 2002. Prenatal diagnosis: molecular genetics and cytogenetics. Best Pract Res Clin Obstet Gynaecol 16: 629-643.
9. Caspersson T, Zech L, Johansson C. 1970. Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res 60: 315-319.
10. Chance P. 2006. Inherited focal, episodic neuropathies: Hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. Neuromolecular Med 8: 159-174.
11. Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T. 2006. Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14: 701 -713.
12. Cheung S, Shaw C, Scott D, et al. 2007. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 143A: 1679-1686.
13. Cooper G, Nickerson D, Eichler E. 2007. Mutational and selective effects on copy-number variants in the human genome. Nat Genet 39: S22-S29.
14. Darilek S,Ward P,Pursley A, et al. 2008. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med 10: 13-18.
15. de Vries BB, Pfundt R, Leisink M, et al. 2005. Diagnostic genome profiling in mental retardation. Am J Hum Genet 77: 606-616.
16. Devriendt K, Vermeesch JR. 2004. Chromosomal phenotypes and submicroscopic abnormalities. Hum Genomics 1: 126-133.
17. Donnenfeld A, Lamb A. 2003. Cytogenetics and molecular cytogenetics in prenatal diagnosis. Clin Lab Med 23: 457-480.
18. Drets M, Shaw M. 1971. Specific banding patterns of human chromosomes. Proc Natl Acad Sci U S A 68: 2073-2077.
19. Driscoll D. 2001. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 3: 14-18.
20. Edwards J, Harnden D, Cameron A, Crosse V, Wolff O. 1960. A new trisomic syndrome. Lancet 1: 787-790.
21. Ensenauer R, Adeyinka A, Flynn H, et al. 2003. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73: 1027-1040.
22. Epstein C, Cox D, Schonberg S, Hogge W. 1983. Recent developments in the prenatal diagnosis of genetic diseases and birth defects. Annu Rev Genet 17: 49-83.
23. Fan YS, Jayakar P, Zhu H, et al. 2007. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat 28: 1124-1132.
24. Fisher N, Starr E, Greene T, Hoehn H. 1980. Utility and limitations of chromosome banding in pre- and postnatal service cytogenetics. Am J Med Genet 5: 285-294.
25. Ford CE, Hamerton JL. 1956. The chromosomes of man. Nature 178: 1020-1023.
26. Ford C, Miller O, Polani P, de Almeida J, Briggs J. 1959. A sex- chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1: 711-713.
27. Friedman JM, Baross A, Delaney AD, et al. 2006. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79: 500-513.
28. Fridman C, Hosomi N, Varela M, Souza A, Fukai K, Koiffmann C. 2003. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am J Med Genet A 119A: 180-183.
29. Fujimoto A, Towner J, Ebbin A, Kahlstrom E, Wilson M. 1974. Inherited partial duplication of chromosome No. 15. J Med Genet 11: 287-291.
30. Hoyer J, Dreweke A, Becker C, et al. 2007. Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 44: 629-636.
31. Jacobs P, Browne C, Gregson N, Joyce C, White H. 1992. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels ofbanding. J Med Genet 29: 103-108.
32. Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. 1973. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 23: 568-585.
33. Jacobs PA, Strong JA. 1959. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183: 302-303.
34. Kidd JM, Cooper GM, Donahue WF, et al. 2008. Mapping and sequencing of structural variation from eight human genomes. Nature 453: 56-64.
35. Kinning E, Tufarelli C, Winship W, Aldred M, Trembath R. 2005. Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. J Med Genet 42:e70.
36. Klopocki E, Ott C, Benatar N, Ullmann R, Mundlos S, Lehmann K. 2008. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 45: 370-375.
37. Klopocki E, Schulze H, Strauss G, et al. 2007. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 80: 232-240.
38. Koolen DA, Sharp AJ, Hurst JA, et al. 2008. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (In press).
39. Korbel JO, Urban AE, Affourtit JP, et al. 2007. Paired-end mapping reveals extensive structural variation in the human genome. Science 318: 420-426.
40. Lalani SR, Safiullah AM, Fernbach SD, et al. 2006. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 78: 303-314.
41. Lapaire O, Lu X, Johnson K, et al. 2007. Array-CGH analysis of cell- free fetal DNA in 10 mL of amniotic fluid supernatant. Prenat Diagn 27: 616-621.
42. Ledbetter D, Martin C. 2007. Cryptic telomere imbalance: a 15-year update. Am J Med Genet C Semin Med Genet 145C: 327-334.
43. Lee C, Iafrate A, Brothman A. 2007. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 39: S48-S54.
44. Lejeune J, Lafourcade J, Berger R, et al. 1963. Trois cas de deletion partielle du bras court d'un chromosome 5. C R Hebd Seances Acad Sci 257: 3098-3102.
45. Lejeune J, Turpin R, Gautier M. 1959. Etude des chromosomes somatiques de neuf enfants mongoliens. C R Acad Sci 248: 1721-1722.
46. Levy S, Sutton G, Ng PC, et al. 2007. The diploid genome sequence of an individual human. PLoS Biol 5: e254.
47. Lu X, Shaw C, Patel A, et al. 2007. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2: e327.
48. Lupski J. 2007. Genomic rearrangements and sporadic disease. Nat Genet 39: S43-S47.
49. Manji S, Roberson J, Wiktor A, et al. 2001. Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect. Genet Med 3: 65-66.
50. Mefford H, Clauin S, Sharp A, et al. 2007. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 81: 1057-1069.
51. Menten B, Buysse K, Zahir F, et al. 2007. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet 44: 264-268.
52. Menten B, Maas N, Thienpont B, et al. 2006. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 43: 625-633.
53. Milunsky A, Littlefield J, Kanfer J, Kolodny E, Shih V, Atkins L. 1970. Prenatal genetic diagnosis. N Engl J Med 283: 1370-1381, 1441-1377, 1498-1504.
54. Moeschler J, Shevell M. 2006. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117: 2304-2316.
55. Montagna M, Dalla Palma M, Menin C, et al. 2003. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12: 1055-1061.
56. Nadler H. 1969. Prenatal detection of genetic defects. J Pediatr 74: 132-143.
57. Ou Z, Berg J, Yonath H, et al. 2008. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10: 267-277.
58. Patau K, Smith D, Therman E, Inhorn S, Wagner H. 1960. Multiple congenital anomaly caused by an extra autosome. Lancet 1: 790-793.
59. Patil S, Merrick S, Lubs H. 1971. Identification of each human chromosome with a modified Giemsa stain. Science 173: 821-822.
60. Pinto D, Marshall C, Feuk L, Scherer S. 2007. Copy-number variation in control population cohorts. Hum Mol Genet 16: R168-R173.
61. Redon R, Ishikawa S, Fitch KR, et al. 2006. Global variation in copy number in the human genome. Nature 444: 444-454.
62. Riccardi V, Sujansky E, Smith A, Francke U. 1978. Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics 61: 604-610.
63. Rickman L, Fiegler H, Shaw-Smith C, et al. 2006. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet 43: 353-361.
64. Roeleveld N, Zielhuis G, Gabreels F. 1997. The prevalence of mental retardation: a critical review of recent literature. Dev Med Child Neurol 39: 125-132.
65. Sahoo T, Cheung S, Ward P, et al. 2006. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 8: 719-727.
66. Saifi G, Szigeti K, Snipes G, Garcia C, Lupski J. 2003. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med 51: 261-283.
67. Schnedl W. 1971. Analysis of the human karyotype using a reassociation technique. Chromosoma 34: 448-454.
68. Seabright M. 1971. A rapid banding technique for human chromosomes. Lancet 2: 971 -972.
69. Sebat J, Lakshmi B, Malhotra D, et al. 2007. Strong association of de novo copy number mutations with autism. Science 316: 445-449.
70. Shaffer L, Kashork C, Saleki R, et al. 2006. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149: 98-102.
71. Shaikh T. 2007. Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Genet Med 9: 617-625.
72. Shaw C, Lupski J. 2004. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13: R57-R64.
73. Shuster E. 2007. Microarray genetic screening: a prenatal roadblock for life? Lancet 369: 526-529.
74. Slater HR, Bailey DK, Ren H, et al. 2005. High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs. Am J Hum Genet 77: 709-726.
75. Sumner A, Evans H, Buckland R. 1971. New technique for distinguishing between human chromosomes. Nat New Biol 232: 31-32.
76. Ting J, Roberson E, Miller N, et al. 2007. Visualization ofuniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Hum Mutat 28: 1225-1235.
77. Tjio J, Levan A. 1956. The chromosome number in man. Hereditas 42: 1-6.
78. Van Esch H, Bauters M, Ignatius J, et al. 2005. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 77: 442-453.
79. van Karnebeek C, Scheper F, Abeling N, et al. 2005. Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard 110: 253-267.
80. Vasickova P, Machackova E, Lukesova M, et al. 2007. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Med Genet 8:32.
81. Veltman J, de Vries B. 2006. Diagnostic genome profiling: unbiased whole genome or targeted analysis? J Mol Diagn 8: 534-539.
82. Vermeesch JR, Fiegler H, de Leeuw N, et al. 2007. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 15: 1105-1114.
83. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955-957.
84. Vissers LE, Veltman JA, van Kessel AG, Brunner HG. 2005. Identification of disease genes by whole genome CGH arrays. Hum Mol Genet 14: Spec No. 2: R215-R223.
85. Warthen D, Moore E, Kamath B, et al. 2006. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat 27: 436-443.
86. Wheeler DA, Srinivasan M, Egholm M, et al. 2008. The complete genome of an individual by massively parallel DNA sequencing. Nature 452: 872-876.
87. Wong KK, de Leeuw RJ, Dosanjh NS, et al. 2007. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80: 91-104.
88. Xu J, Chen Z. 2003. Advances in molecular cytogenetics for the evaluation of mental retardation. Am J Med Genet C Semin Med Genet 117: 15-24.
89. Yunis J, Sanchez O. 1974. A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr 84: 567-570.
90. Zhang Y, Malekpour M, Al-Madani N, et al. 2007. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet 44: 233-240.
91. Zogopoulos G, Ha KC, Naqib F, et al. 2007. Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet 122: 345-353.