References
- http://www.eurocat.ulster.ac.uk
- http://www.cdc.gov/ncbddd/bd/monitoring.htm
- Miniño AM, Heron MP, Murphy SL, Kochanek KD. Centers for Disease Control and Prevention National Center for Health Statistics National Vital Statistics System. Deaths: Final Data for 2004, Natl Vital Stat Rep 2007; 55(19): 1-119.
- Petrini J, Damus K, Russell R, Poschman K, Davidoff MJ, Mattison D. Contribution of birth defects to infant mortality in the United States. Teratology 2002; 66(1): 3-6.
- Czeizel A, Sankaranarayanan K. The load of genetic and partially genetic disorders in man. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life. Mutat Res 1984; 128(1):73-103.
- Cunniff C, Hassed SJ, Hendon AE, Rickert VI. Health care utilization and perceptions of health among adolescents and adults with Turner syndrome. Clin Genet 1995; 48(1): 17-22.
- Czeizel AE. Birth defects are preventable. Int J Med Sci 2005; 2(3):91-92.
- Marden PM, Smith DW, McDonald MJ. Congenital anomalies in the newborn infant including minor variations. J Pediatr 1964; 64: 357-371.
- Lippig KA, Werler MM, Caron CI, Cook CA, Holmes LB. Predictive value of minor abnormalities: association with major malformations. J Pediatr 1987; 110(4): 530-537.
- Wellesley D, Boyd P, Dolk H, Pattenden S. An etiological classification of birth defects for epidemiological research. J Med Genet 2005; 42(1): 54-57.
- Kalter IT, Warkany J. Medical progress. Congenital malformations: etiologic factors and their role in prevention (Part I). N Engl J Med 1983; 308(8): 424-431:
- Kalter IT, Warkany J. Congenital malformations (Part II). N Engl J Med 1983; 308(9): 491-497.
- Nelson K, Holmes LB. Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med 1989; 320(1): 19-23.
- Larrabee P, Johnson K, Pestova E, Lucas M, Wilber K, LeShane E, Tantravahi U, Cowan J, Bianchi D. Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype. Am J Hum Genet 2004; 75(3): 485-491.
- Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Microarray based comparative genomic hybridization (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004; 41(4): 241-248.
- Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, Cremer T, Lichter P. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 1997; 20(4): 399-407.
- Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo W-L, Chen C, Zhai Y, Dairkee SH, Ljung B-M, Gray JW, Albertson DG. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20(2): 207-211.
- Schaeffer AJ, Chung J, Heretis K, Wong A, Led-better DH, Lese Martin C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 2004; 74(6): 1168-1174.
- Trilochan S, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SHL, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa B, Beaudet AL, Eng CM. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 2006; 8(11): 719-727.
- Bar-Shira A, Rosner G, Rosner S, Goldstein M, Urtreger AO. Array-based comparative genome hybridization in clinical genetics. Pediatr Res 2006; 60(3): 353-358.
- Thienpont B, Mertens L, Ravel T, EyskensB, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 2007; 28(22): 2778-2784.
- Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. 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 2006; 43(8): 625-633.
- Vermeesch JR, Melotte C, Froyen G, Van Vooren S, Dutta B, Maas N, Vermeulen S, Menten B, Speleman F, De Moor B, Van Hummelen P, Marynen P, Fryns JP, Devriendt K. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 2005; 53(3): 413-422.
- Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Hum Genet 2007; 143A(15): 1679-166.
- Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD,. Shaffer LG, Bejjani BA. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Hum Genet 2006; 140(24): 2757-2767.
- Dimova I, Vazharova R, Nikolova D, Tincheva R, Nesheva D, Toncheva D. Whole genome analysis by array-based comparative genomic hybridization in patients with congenital malformations. Balkan J Med Genet 2009; (submitted).
- Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Kyung Cho E, 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. Global variation in copy number in the human genome. Nature 2006; 444(7118): 444-454.
- Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006; 7(2): 85-97.
- Freeman J, Perry G, Feuk L, Redon R, McCarroll S, Altshuler D, Aburatani H, Jones K, Tyler-Smith C, Hurles M, Carter N, Scherer S, Lee C. Copy number variation: new insights into genome diversity. Genome Res 2006; 16(8): 949-961.
- Scherer S, Lee C, Birney E, Altshuler D, Eichler E, Carter N, Hurles M, Feuk L. Challenges and standards in integrating surveys of structural variation. Nat Genet 2007; 39(7): 7-15.
- Cheroki C, Krepischi-Santos ACV, Szuhai K, Brenner V, Kim CAE, Otto PA, Rosenberg C. Genomic imbalances associated with müllerian aplasia. J Med Genet 2008; 45(4): 228-232.
- Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Detection of genomic imbalances by array based comparative genomic hybridization in fetuses with multiple malformations. J Med Genet 2005; 42(2): 121-128.
- Shaffer LG, Bejjani BA. Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 2006; 115(3-4): 303-309.
- Sanlaville D, Lapierre JM, Turleau C, Coquin A, Borck G, Colleaux L, Vekemans M, Romana SP. Molecular karyotyping in human constitutional cytogenetics. Eur J Med Genet 2005; 48(3): 214-231.
- Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL. A tiling resolution DNA microarray with complete coverage of the human genome. Genet Nat 2004; 36(3): 299-303.
- Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJM, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, TJ, Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006; 79(6): 500-513.
- Sebat J, Lakshmi B, Malhotra D, Troge J, Lese C, WalshMT, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimaki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam CT, Ye K, Wigler M. Strong association of de novo copy number mutations with autism. Science 2007; 316(5823): 445-449.
- De Ravel D, Fryns JP, Vermeesch JR. What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH). Eur J Pediatr 2007; 166(7): 637-643.
- Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, Staessen C, Moreau Y, Fryns JP, Van Steirteghem A, Liebaers I, Vermeesch JR. Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res 2006; 34(9): e68.