Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

Journal of Medical Genetics

Volumn 48, Issue 5, 2011, Pages 317-322

  Joseph George, Ann M ^a,b   He, Yongshu ^a   Marshall, Christian R ^a   Wong, Raymond C C ^a   MacDonald, Jeffrey R ^a   Fahey, Ciara A ^a   Chitayat, David ^c,d   Chun, Kathy ^d,e   Ryan, Greg ^c,d   Summers, Anne M ^e   Winsor, Elizabeth J T ^c,d   Scherer, Stephen W ^a,d,f  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e NORTH YORK GENERAL HOSPITAL   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 9Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE STRUCTURE; GENETIC RECOMBINATION; HUMAN; MICROARRAY ANALYSIS; PRIORITY JOURNAL;

ADULT; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 9; DNA COPY NUMBER VARIATIONS; FETUS; GENE AMPLIFICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICROARRAY ANALYSIS;

EID: 79955545059     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.085662     Document Type: Article

References (25)

1. Barber JCK. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005;42:609-29.
2. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blöcker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I. DNA sequence and analysis of human chromosome 9. Nature 2004;429:369-74.
3. Di Giacomo MC, Cesarano C, Bukvic N, Manisali E, Guanti G, Susca F. Duplication of 9p11.2-p13.1: a benign cytogenetic variant. Prenat Diagn 2004;24:619-22.
4. Lecce R, Murdolo M, Gelli G, Steindl K, Coppola L, Romano A, Cupelli E, Neri G, Zollino M. The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12. Hum Genet 2006;118:760-6.
5. Willatt LR, Barber JC, Clarkson A, Simonic I, Raymond FL, Docherty Z, Ogilvie CM. Novel deletion variants of 9q13-21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin. Eur J Hum Genet 2007;15:45-52.
6. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE. Recent segmental duplications in the human genome. Science 2002;297:1003-7.
7. Madan K. An extra band in human 9qh+ chromosomes. Hum Genet 1978;43:259-64.
8. Wojiski SA, Rhodes CH, Brodhurst CA, Mohandas TK, Park JP. The G positive band of the rare euchromatic 9qh variant is derived from 9p12. Appl Cytogenet 1997;23:125-9.
9. Jalal SM, Kukolich MK, Garcia M, Day DW. Euchromatic 9q+ heteromorphism in a family. Am J Med Genet 1990;37:155-6.
10. Knight LA, Soon GM, Tan M. Extra G positive band on the long arm of chromosome 9. J Med Genet 1993;30:613.
11. Reddy KS. Variants of chromosome 9 with additional euchromatic bands: two case reports. Am J Med Genet 1996;64:536-8.
12. Osborne LR, Joseph-George AM, Scherer SW. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridisation. Methods Mol Med 2006;126:113-28.
13. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-51.
14. Kennedy GC, Matsuzaki H, Dong S, Liu WM, Huang J, Liu G, Su X, Cao M, Chen W, Zhang J, Liu W, Yang G, Di X, Ryder T, He Z, Surti U, Phillips MS, Boyce-Jacino MT, Fodor SP, Jones KW. Large-scale genotyping of complex DNA. Nat Biotechnol 2003;21:1233-7.
15. Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, Lee C, Nizzari MM, Gabriel SB, Purcell S, Daly MJ, Altshuler D. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008;40:1253-60.
16. Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol 2003;4:R25.
17. Eichler EE, Sankoff D. Structural dynamics of eukaryotic chromosome evolution. Science 2003;301:793-7.
18. 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. Global variation in copy number in the human genome. Nature 2006;444:444-54.
19. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. Origins and functional impact of copy number variation in the human genome. Nature 2010;464:704-12.
20. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006;7:85-97.
21. Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002;18:74-82.
22. Bailey JA, Eichler EE. Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 2006;7:552-64.
23. Horvath JE, Bailey JA, Locke DP, Eichler EE. Lessons from the human genome: transitions between euchromatin and heterochromatin. Hum Mol Genet 2001;10:2215-23.
24. Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X. Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. Hum Mol Genet 2003;12:2201-8.
25. Lee C, Scherer SW. The clinical context of copy number variation in the human genome. Expert Rev Mol Med 2010;12:e8.