Human molecular cytogenetics: From cells to nucleotides

Genetics and Molecular Biology

Volumn 37, Issue 1 SUPPL. 1, 2014, Pages 194-209

  Riegel, Mariluce ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

Array CGH; Copy number variation; FISH; Genomic disorders; Molecular cytogenetics

Indexed keywords

NUCLEOTIDE;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; AUTISM; C BANDING; CELLS; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CHRONIC LYMPHATIC LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; COMBINED BINARY RATIO LABELING FLUORESCENCE IN SITU HYBRIDIZATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DISORDER; COPY NUMBER VARIATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; HEMATOLOGIC DISEASE; HUMAN; INTELLECTUAL IMPAIRMENT; MEDICAL RESEARCH; MENTAL DEFICIENCY; MOLECULAR GENETICS; MULTICOLOR FLUORESCENCE IN SITU HYBRIDIZATION; MYELODYSPLASTIC SYNDROME; NEOPLASM; POSTNATAL CARE; PRENATAL DIAGNOSIS; REVIEW; SPECTRAL KARYOTYPING FLUORESCENCE IN SITU HYBRIDIZATION;

EID: 84901670973     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572014000200006     Document Type: Review

References (168)

1. 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT and McVean GA (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56-65.
2. ACOG Committee (2009) Opinion No. 446: Array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 114:1161-1163.
3. Albertson DG and Pinkel D (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 2 (Spec No 2):R145-R152.
4. Arlt MF, Ozdemir AC, Birkeland SR, Lyons Jr RH, Glover TW and Wilson TE (2011) Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing. Genetics 187:675-83.
5. Arlt MF, Wilson TE and Glover TW (2012) Replication stress and mechanisms of CNV formation. Curr Opin Genet Dev 22:204-210.
6. Arnold J (1879) Beobachtungen über Kernteilungen in den Zellen der Geschwülste. Virchows Arch Pathol Anat 78:279.
7. Aubert G and Lansdorp PM (2008) Telomeres and aging. Physiol Ver 88:557-579.
8. Bale S, Devisscher M, Van Criekinge W, Rehm HL, Decouttere F, Nussbaum R, Dunnen JT and Willems P (2011) MutaDATABASE: A centralized and standardized DNA variation database. Nat Biotechnol 29:117-1188.
9. Balliff BC, Rorem EA, Sundin K, Linicium M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG and Beijani BA (2006) Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 140A:2757-2767.
10. Banerjee D and Shah SP (2013) Methods in Molecular Biology 973: Array Comparative Genomic Hybridization (Protocols and Applications). Humana Press, New Jersey, 382 pp.
11. Barber JC (2005) Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42:609-629.
12. Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, Lalani SR, Patel A, Stankiewicz P, Lupski JR, et al. (2013) Comparison of chromosome analysis and chromosomal microarray analysis: What is the value of chromosome analysis in today's genomic array era? Genet Med 15:450-457.
13. Bick D and Dimmock D (2011) Whole exome and whole genome sequencing. Curr Opin Pediatr 23:594-600.
14. Blakeslee AF and Avery AG (1937) Methods of inducing doubling of chromosomes in plants. J Hered 28:392-411.
15. Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, et al. (2013) Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res 23:1383-1394.
16. Brady PD and Vermeesch JR (2012) Genomic microarrays: A technology overview. Prenat Diag 32:336-343.
17. Brady PD, Delle Chiaie B, Christenhusz G, Dierickx K, Van Den Bogaert K, Menten B, Janssens S, Defoort P, Roets E, Sleurs E, et al. (2013) A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors. Genet Med 2013 [Epub ahead of print].
18. Brambati B and Simoni G (1983) Diagnosis of fetal trisomy 21 in first trimester. Lancet 1:586.
19. Bucksch M, Ziegler M, Kosayakova N, Mulatinho MV, Llerena Jr JC, Morlot S, Fischer W, Polityko AD, Kulpanovich AI, Petersen MB, et al. (2012) A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH. J Histochem Cytochem 60:530-36.
20. Cai WW, Mao JH, Chow CW, Damani S, Balmain A and Bradley A (2002) Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat Biotechnol 20:393-396.
21. Carless M (2009) Analysis of genomic aberrations using comparative genomic hybridization of metaphase chromosomes. Methods Mol Biol 523:177-202.
22. Carter NP, Ferguson-Smith MA, Perryman MT, Telenius H, Pelmear AH, Leversha MA, Glancy MT, Wood SL, Cook K, Dyson HM, et al. (1992) Reverse chromosome painting: A method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J Med Genet 29:299-307.
23. Caspersson T, Farber S, Foley GE, Kudynowski J, Modest EJ, Simonsson E, Wagh U and Zech L (1968) Chemical differentiation along metaphase chromosomes. Exp Cell Res 49:219-222.
24. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, et al. (2007) Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 143:1679-1686.
25. Chung YJ, Jonkers J, Kitson H, Fiegler H, Humphray S, Scott C, Hunt S, Yu Y, Nishijima I, Velds A, et al. (2004) A whole-genome mouse BAC microarray with 1-Mb resolution for analysis of DNA copy number changes by array comparative genomic hybridization. Genome Res 14:188-196.
26. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464:704-712.
27. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, et al. (2011) A copy number variation morbidity map of developmental delay. Nat Genet 43:838-846.
28. Cremer T, Landegent J, Brückner A, Scholl HP, Schardin M, Hager HD, Devilee P, Pearson P and van der Ploeg M (1986) Detection of chromosome aberrations in the human inter-phase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: Diagnosis of trisomy 18 with probe L1.84. Hum Genet 74:346-352.
29. Currall BB, Chiang C, Talkowski ME and Morton CC (2013) Mechanisms for structural variation in the human genome. Curr Genet Med Rep 1:81-90.
30. Daniely M, Aviram-Goldring A, Barkai G and Goldman B (1998) Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod 13:805-809.
31. de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CM, et al. (2012) Diagnostic interpretation of array data using public databases and internet sources. Hum Mutat [Epub ahead of print].
32. Deak KL, Horn SR and Rehder CW (2011) The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: Variable expressivity and genomic complexity. Clin Lab Med 4:543-564.
33. Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, et al. (2013) P NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res 23:1395-1409.
34. Eagle H (1955) Nutrition Needs of Mammalian Cells in Tissue Culture. Science 122:501-504.
35. Eiben B, Hammans W, Goebel R and Epplen JT (1998) Ein neuer Schnelltest (FISH) zur pränatalen Diagnostik der häufigsten Chromosomenaberrationen-welche Bedeutung hat er für die Praxis? Dtsch Med Wochenschr 123:55-57.
36. Evangelidou P, Alexandrou A, Moutafi M, Ioannides M, Antoniou P, Koumbaris G, Kallikas I, Velissariou V, Sismani C and Patsalis PC (2013) Implementation of high resolution whole genome array CGH in the prenatal clinical setting: Advantages, challenges, and review of the literature. Biomed Res Int 2013:e346762.
37. Feuk L, Carson AR and Scherer SW (2006) Structural variation in the human genome. Nat Rev Genet 7:85-97.
38. Fiegler H, Gribble SM, Burford DC, Carr P, Prigmore E, Porter KM, Clegg S, Crolla JA, Dennis NR, Jacobs P, et al. (2003) Array painting: A method for the rapid analysis of aberrant chromosomes using DNA microarrays. J Med Genet 40:664-670.
39. Flemming W (1882) Beiträge zur Kenntnis der Zelle und ihrer Lebenserscheinungen III. Arch Mikrosk Anat 20:1.
40. Florijn RJ, Bonden LA, Vrolijk H, Wiegant J, Vaandrager JW, Baas F, den Dunnen JT, Tanke HJ, van Ommen GJ and Raap AK (1995) High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes. Hum Mol Genet 4:831-836.
41. Ford CE, Miller OJ, Polani PE, de Almeida JC and Briggs JH (1959) A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1:711-713.
42. Forozan F, Karhu R, Kononen J, Kallioniemi A and Kallioniemi OP (1997) Genome screening by comparative genomic hybridization. Trends Genet 13:405-409.
43. Gall JG and Pardue ML (1969) Formation and detection of RNA-DNA hybrid molecules in cytological preparations. Proc Natl Acad Sci USA 63:378-383.
44. Gartler SM (2006) The chromosome number in humans: A brief history. Nat Rev Genet 7:655-660.
45. Gebhart E (2004) Comparative genomic hybridization (CGH): Ten years of substantial progress in human solid tumor molecular cytogenetics. Cytogenet Genome Res 104:352-358.
46. German JL and Bearn AG (1961) Asynchronous thymidine uptake by human chromosomes. J Clin Invest 40:1041-1042.
47. Geurts R and de Jong H (2013) Fluorescent In Situ Hybridization (FISH) on pachytene chromosomes as a tool for genome characterization. Methods Mol Biol 1069:15-24.
48. Gijsbers AC, Schoumans J and Ruivenkamp CA (2011) Interpretation of array comparative genome hybridization data: A major challenge. Cytogenet Genome Res 135:222-227.
49. Girirajan S (2013) Genomic disorders: Complexity at multiple levels. Genome Med 29:5-43.
50. Girirajan S and Eichler EE (2010) Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19(R2):R176-R87.
51. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, et al. (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42:203-209.
52. Girirajan S, Campbell CD and Eichler EE (2011) Human copy number variation and complex genetic disease. Annu Rev Genet 45:203-226.
53. Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, et al. (2012) Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 367:1321-1331.
54. Greisman HA, Hoffman NG and Yi HS (2011) Rapid highresolution mapping of balanced chromosomal rearrangements on tiling CGH arrays. J Mol Diagn 13:621-633.
55. Greisman HA, Hoffman NG, Yi HS, Grody WW, Thompson BH and Hudgins L (2013) Whole-exome/genome sequencing and genomics. Pediatrics 132(Suppl 3):S211-S215.
56. Hahnemann N (1974) Early prenatal diagnosis: A study of biopsy techniques and cell culturing from extraembryonic membranes. Clin Genet 6:294-306.
57. Hansemann D (1890) Über asymmetrische Zellteilung in Epithelkrebsen und deren biologische Bedeutung. Arch Pathol Anat 119:299-326.
58. Harton GL, Munné S, Surrey M, Grifo J, Kaplan B, McCulloh DH, Griffin DK, Wells D and PGD Practitioners Group (2013) Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil Steril 100:1695-1703.
59. Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BB, Ponting CP and Veltman JA (2010) Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol 6:e1000752.
60. Heiskanen M, Hellsten E, Kallioniemi OP, Mäkelä TP, Alitalo K, Peltonen L and Palotie A (1995) Visual mapping by fiber-FISH. Genomics 30:31-36.
61. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER and Kilby MD (2011) Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: A systematic review and meta-analysis. Ultrasound Obstet Gynecol 37:6-14.
62. Hiraoka Y, Sedat JW and Agard DA (1987) The use of a charge-coupled device for quantitative optical microscopy of biological structures. Science 238:36-41.
63. Hochstenbach R, Buizer-Voskamp JE, Vorstman JA and Ophoff RA (2011) Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: Lessons for diagnostic workflow and research. Cytogenet Genome Res 135:174-202.
64. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW and Lee C (2004) Detection of large-scale variation in the human genome. Nat Genet 36:949-51.
65. ISCN (2013) An International System for Human Cytogenetic Nomenclature. Karger, Basel, 140 pp.
66. Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, et al. (2004) A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303.
67. Jacobs PA and Strong JA (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303.
68. Johansen Taber KA, Dickinson BD and Wilson M (2013) The promise and challenges of next-generation genome sequencing for clinical care. JAMA Intern Med 174:275-280.
69. John HA, Birnstiel ML and Jones KW (1969) RNA-DNA hybrids at the cytological level. Nature 223:582-587.
70. Kallioniemi A (2008) CGH microarrays and cancer. Curr Opin Biotechnol 19:36-40.
71. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F and Pinkel D (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258:818-821.
72. Kazazian Jr HH and Moran JV (1998) The impact of L1 retro-transposons on the human genome. Nat Genet 19:19-24.
73. Kearney L (2006) Multiplex-FISH (M-FISH): Technique, developments and applications. Cytogenet Genome Res 114:189-198.
74. Kirchhoff M, Rose H and Lundsteen C (2001) High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 38:740-744.
75. Langer PR, Waldrop AA and Ward DC (1981) Enzymatic synthesis of biotin-labeled polynucleotides: Novel nucleic acid affinity probes. Proc Natl Acad Sci USA 78:6633-6637.
76. Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, Staessen C, Moreau Y, Fryns JP, Van Steirteghem A, et al. (2006) Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res 34:e68.
77. Le Scouarnec S and Gribble SM (2012) Characterising chromosome rearrangements: Recent technical advances in molecular cytogenetics. Heredity (Edinb) 108:75-85.
78. Lee JA, Carvalho CM and Lupski JR (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131:1235-1247.
79. Lejeune J, Gautier M and Turpin MR (1959) Etude des chromosomessomatiques de neuf enfants mongoliens. C R Acad Sci (Paris) 248:1721-1722.
80. Lestou VS, Lomax BL, Barrett IJ and Kalousek DK (1999) Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization. Teratology 59:325-330.
81. Levan A (1938) The effect of colchicine on root mitosis in Allium. Heredity 24:471-486.
82. Lichtenbelt KD, Knoers NV and Schuring-Blom GH (2011) From karyotyping to array-CGH in prenatal diagnosis. Cytogenet Genome Res 135:241-250.
83. Liehr T (2009) Fluorescence In Situ Hybridization (FISH) Application Guide. Springer, Berlin, 452 pp.
84. Liehr T (2012) Small Supernumerary Marker Chromosomes (SSMC). A Guide for Human Geneticists and Clinicians. Springer, Heidelberg, 220 pp.
85. Liehr T (2014) Benign & Pathological Chromosomal Imbalances. Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling. Elsevier, London, 232 pp.
86. Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A and Claussen U (2002) Microdis-section based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9:335-339.
87. Liehr T, Starke H, Weise A, Lehrer H and Claussen U (2004) Multicolor FISH probe sets and their applications. Histol Histopathol 19:229-237.
88. Lupski JR and Stankiewicz P (2005) Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49.
89. Mantripragada KK, Tapia-Páez I, Blennow E, Nilsson P, Wedell A and Dumanski JP (2004) DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med 13:273-279.
90. Marcus DA (1988) High-performance optical filters for fluorescence analysis. Cell Motil Cytoskeleton 10:62-70.
91. Martens UM, Zijlmans JM, Poon SS, Dragowska W, Yui J, Chavez EA, Ward RK and Lansdorp PM (1998) Short telomeres on human chromosome 17p. Nat Genet 18:76-80.
92. Matthey R (1949) Les Chromosomes des Vertébrés. Librairie de I'Universite, F. Rouge-Lausanne, 356 pp.
93. McDonnell SK, Riska SM, Klee EW, Thorland EC, Kay NE, Thibodeau SN, Parker AS and Eckel-Passow JE (2013) Experimental designs for array comparative genomic hybridization technology. Cytogenet Genome Res 139:250-257.
94. McNamara LE, Dalby MJ and Tsimbouri MP (2014) The use of microarrays and fluorescence in situ hybridization for the study of mechanotransduction from topography. Methods Cell Biol 119:293-309.
95. Meltzer PS, Guan XY, Burgess A and Trent JM (1992) Rapid generation of region specific probes by chromosome micro-dissection and their application. Nat Genet 1:24-28.
96. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, et al. (2010) Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749-764.
97. Moorhead PS, Nowell PC, Mellman WJ, Battips DM and Hungerford DA (1960) Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res 20:613-616.
98. Ness GO, Lybaek H and Houge G (2002) Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am J Med Genet 113:125-136.
99. Niazi M, Coleman DV and Loeffler FE (1981) Trophoblast sampling in early pregnancy. Culture of rapidly dividing cells from immature placental villi Br J Obstet Gynaecol 88:1081-1085.
100. Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, et al. (2014) Cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH. Pathology 46:41-45.
101. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U and Liehr T (2001) A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108:199-204.
102. Nowell PC (1960) Phytohemagglutinin: An initiator of mitosis in cultures of normal human leukocytes. Cancer Res 20:462-466.
103. Painter TS (1923) Studies in mammalian spermatogenesis II. The spermatogenesis of man. J Exp Zool 37:291-321.
104. Palmer E, Speirs H, Taylor PJ, Mullan G, Turner G, Einfeld S, Tonge B and Mowat D (2014) Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability. Am J Med Genet A 164:377-385.
105. Pardue ML and Gall JG (1970) Chromosomal localization of mouse satellite DNA. Science 168:1356-1358.
106. Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, et al. (2008) The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet 82:685-695.
107. Pinkel D, Gray JW, Trask B, van den Engh G, Fuscoe J and van Dekken H (1986a) Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harbor Symp Quant Biol 51:151-157.
108. Pinkel D, Straume T and Gray JW (1986b) Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
109. Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J and Gray JW (1988) Fluorescence in situ hybridization with human chromosome-specifi c libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142.
110. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, et al. (1998) High resolution analysis of DNA copy number variations using comparative genomic hybridization to microarrays. Nat Genet 20:207-211.
111. Pita M, Orellana J, Martínez-Rodríguez P, Martínez-Ramírez A, Fernández-Calvín B and Bella JL (2014) FISH methods in cytogenetic studies. Methods Mol Biol 1094:109-135.
112. Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D and Brown PO (1999) Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 23:41-46.
113. Priest JR, Girirajan S, Vu TH, Olson A, Eichler EE and Portman MA (2012) Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. Am J Med Genet 158A:1279-1284.
114. Rabbani B, Tekin M and Mahdieh N (2014) The promise of whole-exome sequencing in medical genetics. J Hum Genet 59:5-15.
115. Rafati M, Seyyedaboutorabi E, Ghadirzadeh MR, Heshmati Y, Adibi H, Keihanidoust Z, Eshraghian MR, Javadi GR, Dastan J, Mosavi-Jarrahi A, et al. (2012) "Familial" vs. "Sporadic" intellectual disability: Contribution of common microdeletion and microduplication syndromes. Mol Cytogenet 5:9.
116. Reichman J (2000) Handbook of optical filters for fluorescence microscopy. Chroma Technology, Brattleboro, 36 pp.
117. Rickman L, Fiegler H, Carter NP and Bobrow M (2005) Prenatal diagnosis by array-CGH. Eur J Med Genet 48:232-240.
118. Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, et al. (2012) Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet 81:403-412.
119. Rosner M, Pergament E, Andriole S, Gebb J, Dar P and Evans MI (2013) Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses. Prenat Diagn 33:940-944.
120. Rouillard JM, Herbert CJ and Zuker M (2002) OligoArray: Genome-scale oligonucleotide design for microarrays. Bioinformatics 18:486-487.
121. Rufer N, Dragowska W, Thornbury G, Roosnek E, Lansdorp PM (1998) Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometry. Nat Biotechnol 16:743-747.
122. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70:863-885.
123. Schinzel A (2001) Catalogue of Unbalanced Chromosome Aberrations in Man. 2nd edition. Walter de Gruyter, Berlin, 966 pp.
124. Schinzel A, Riegel M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH and Giedion A (2013) Long-term follow-up of four patients with Langer-Giedion syndrome: Clinical course and complications. Am J Med Genet A 161:2216-2225.
125. Schou KV, Kirchhoff M, Nygaard U, Jørgensen C and Sundberg K (2009) Increased nuchal translucency with normal karyo-type: A follow-up study of 100 cases supplemented with CGH and MLPA analyses. Ultrasound Obstet Gynecol 34:618-622.
126. Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, et al. (1996) Multicolor spectral karyotyping of human chromosomes. Science 273:494-497.
127. Schröck E, Zschieschang P, O'Brien P, Helmrich A, Hardt T, Matthaei A and Stout-Weider K (2006) Spectral karyo-typing of human, mouse, rat and ape chromosomes-Applications for genetic diagnostics and research. Cytogenet Genome Res 114:199-221.
128. Seabright M (1971). A rapid banding technique for human chromosomes. Lancet 2:971-972.
129. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Mànér S, Massa H, Walker M, Chi M, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305:525-528.
130. Shao L, Kang SH, Li J, Hixson P, Taylor J, Yatsenko SA, Shaw CA, Milosavljevic A, Chang CC, Cheung SW, et al. (2010) Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics. J Mol Diagn 12:670-679.
131. Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, et al. (2013) Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. Am J Med Genet A [Epub ahead of print].
132. Simons A, Sikkema-Raddatz B, de Leeuw N, Konrad NC, Hastings RJ and Schoumans J (2012) Genome-wide arrays in routine diagnostics of hematological malignancies. Hum Mutat Mutat 33:941-948.
133. Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, et al. (2001) Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 29:263-264.
134. Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, Cremer T and Lichter P (1997) Matrixbased comparative genomic hybridization: Biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20:399-407.
135. Speicher MR, Ballard SG and Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fl uor FISH. Nat Genet 12:368-375.
136. Steele MW and Breg Jr WR (1966) Chromosome analysis of human amniotic-fluid cells. Lancet 1:383-385.
137. Stefansson H, Meyer-Lindenberg A, Steinberg S, Magnusdottir B, Morgen K, Arnarsdottir S, Bjornsdottir G, Walters GB, Jonsdottir GA, Doyle OM, et al. (2014) CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 505:361-6.
138. Stumm M, Wegner RD, Bloechle M and Eckel H (2006) Inter-phase M-FISH applications using commercial probes in prenatal and PGD diagnostics. Cytogenet Genome Res 114:296-301.
139. Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR and Zhang F (2013) Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: Evidence from Potocki-Lupski duplication syndrome. Hum Mol Genet 22:749-756.
140. Tanke HJ, Wiegant J, van Gijlswijk RP, Bezrookove V, Pattenier H, Heetebrij RJ, Talman EG, Raap AK and Vrolijk J (1999) New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling. Eur J Hum Genet 7:2-11.
141. Telenius H, Carter NP, Bebb CE, Nordenskjöld M, Ponder BA and Tunnacliffe A (1992) Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer. Genomics 13:718-725.
142. Tijo JH and Levan A (1956) The chromosome number of man. Hereditas 42:1-6.
143. van der Veken LT and Buijs A (2011) Array CGH in human leukemia: From somatics to genetics. Cytogenet Genome Res 135:260-270.
144. Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, et al. (2007) Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 15:1105-1114.
145. Vermeesch JR, Brady PD, Sanlaville D, Kok K and Hastings RJ (2012) Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics. Hum Mutat 33:906-915.
146. Vetro A, Bouman K, Hastings R, McMullan DJ, Vermeesch JR, Miller K, Sikkema-Raddatz B, Ledbetter DH, Zuffardi O and van Ravenswaaij-Arts CM (2012) The introduction of arrays in prenatal diagnosis: A special challenge. Hum Mutat 33:923-929.
147. Vissers LE and Stankiewicz P (2012) Microdeletion and micro-duplication syndromes. Methods Mol Biol. 838:29-75.
148. Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, et al. (2003) Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270.
149. Vorsanova SG, Yurov YB and Iourov IY (2010) Human inter-phase chromosomes: A review of available molecular cytogenetic technologies. Mol Cytogenet 3:1-15.
150. Vulto-van Silfhout AT, van Ravenswaaij CM, Hehir-Kwa JY, Verwiel ET, Dirks R, van Vooren S, Schinzel A, de Vries BB and de Leeuw N (2013) An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. Eur J Med Genet 56:471-474.
151. Waldeyer W (1888) Über Karykinese und ihre Beziehung zu den Befruchtungsvorgängen. Arch Mikrosk Anat 32:1-112.
152. Wegner DE (1999) Diagnostic Cytogenetics. Springer, Berlin, 460 pp.
153. Weise A, Gross M, Mrasek K, Mkrtchyan H, Horsthemke B, Jonsrud C, Von Eggeling F, Hinreiner S, Witthuhn V, Claussen U, et al. (2008) Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level. Int J Mol Med 21:189-200.
154. Weise A, Mrasek K, Klein E, Mulatinho MV, Llerena Jr JC, Hardekopf D, Pekova S, Bhatt S, Kosyakova N and Liehr T (2012) Microdeletion and microduplication syndromes. J Histochem Cytochem 60:346-58.
155. Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, et al. (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464:713-720.
156. Wells D and Delhanty JD (2000) Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 6:1055-1062.
157. Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, et al. (2014) Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet 22:79-87.
158. Xing J, Zhang Y, Han K, Salem AH, Sen SK, Huff CD, Zhou Q, Kirkness EF, Levy S, Batzer MA and Jorde LB (2009) Mobile elements create structural variation: Analysis of a complete human genome. Genome Res 19:1516-1526.
159. Yunis JJ (1976) High resolution of human chromosomes. Science 191:1268-1270.
160. Centre for the Development and Evaluation of Complex Interventions for Public Health Improvement (DECIPHER) project: http://decipher.sanger.ac.uk (2014-01-28).
161. The Chromosome Anomaly Collection: http://www.ngrl.org.uk/wessex/collection/ (2014-01-28).
162. Chromosomal Variation in Man Online Database: http://www.wiley.com/legacy/products/sub-ject/life/borgaonkar/access.html (2014-01-28).
163. Cytogenetic Data Analysis System (CyDAS): http://www.cydas.org/ (2014-01-28).
164. Database of genomic structural variation (bdVar): http://www.ncbi.nlm.nih.gov/dbvar/ (2014-01-28).
165. Ensembl: www.ensembl.org/ (2014-01-28).
166. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA): www.ecaruc.net (2014-01-28).
167. The International Standards for Cytogenomic Arrays (ISCA) Consortium: https://www.iscaconsortium.org/index.php (2014-01-28).
168. Small supernumerary marker chromosomes: http://ssmc-tl.com/sSMC.html (2014-01-28).