The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity

American Journal of Human Genetics

Volumn 81, Issue 4, 2007, Pages 847-856

  Fickelscher, Ina ^a   Liehr, Thomas ^a   Watts, Kathryn ^b   Bryant, Victoria ^b   Barber, John C K ^b   Heidemann, Simone ^c   Siebert, Reiner ^c   Hertz, Jens Michael ^d   Tümer, Zeynep ^e   Thomas, N Simon ^b  

^a FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENETIC HETEROGENEITY; HAPLOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

EID: 35348970822     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/521226     Document Type: Article

References (31)

1. Ensembl Cytoview, http://www.ensembl.org/Homo_sapiens/cytoview
2. Genome Database, http://www.gdb.org/
3. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/ Omim/ (for ANAPC1)
4. UCSC Genome Browser, http://www.genome.ucsc.edu/index.html
5. Kaiser P (1984) Pericentric inversions: problems and significance for clinical genetics. Hum Genet 68:1-47
6. Youings S, Ellis K, Ennis S, Barber J, Jacobs P (2005) A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. Am J Med Genet 126A:46-60
7. Gardner RJM, Sutherland GT (1996) Chromosome abnormalities and genetic counselling, 2nd ed. Oxford University Press, Oxford, pp 115-182
8. Boue J, Boue A (1978) Prenatal diagnosis in 100 structural rearrangements of the chromosomes. Cytogenet Cell Genet 20:213-225
9. Groupe de Cytogeneticiens Francais (1986) Pericentric inversions in man. Ann Genet 29:129-168
10. MacDonald IM, Cox DM (1985) Inversion of chromosome 2(p11q13): frequency and implications for genetic counseling. Hum Genet 69:281-283
11. Vejerslev LO, Friedrich U(1984) Experiences with unexpected structural aberrations in prenatal diagnosis in a Danish series. Prenat Diagn 4:181-186
12. Hysert M, Bruyere H, Cote GB, Dawson AJ, Dolling J-A, Fetni R, Hrynchak M, Lavoie J, McGowan-Jordan J, Tihy F, et al (2006) Prenatal cytogenetic assessment and inv(2)(p11.2q13). Prenat Diagn 26:810-813
13. Horvath JE, Gulden CL, Vallente RU, Eichler MY, Ventura M, McPherson JD, Graves TA, Wilson RK, Schwartz S, Rocchi M, et al (2005) Punctuated duplication seeding events during evolution of human chromosome 2p11. Genome Res 15:914-927
14. Ijdo JW, Baldini A, Ward DC, Reeders ST, Wells RA (1991) Origin of human chromosome 2: an ancestral telomere-telomere fusion. Proc Natl Acad Sci 88:9051-9055
15. Fan Y, Linardopoulou E, Friedman C, Williams E, Trask BJ (2002) Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes. Genome Res 12:1651-1662
16. Sebat J, Kakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, et al (2004) Large-scale copy number variation polymorphism in the human genome. Science 305:525-528
17. Goidts V, Armengol L, Schempp W, Conroy J, Nowak N, Muller S, Cooper DN, Estervill X, Enard W, Szamalek JM, et al (2006) Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet 119:185-198
18. Bailey JA, Eichler EE (2006) Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 7:552-564
19. Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tumer Z, et al (2006) Breakpoint cloning and haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) among Northern Europeans. Am J Hum Genet 78:878-883
20. Liehr T, Wiese A, Heller A, Starke H, Mrasek K, Kuechler A, Weier HU, Claussen U (2002) Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries. Cytogenet Genome Res 97:43-50
21. Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosome identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013
22. Lacbawan FL, White BJ, Anguiano A, Rigdon DT, Ball KD, Bromage GB, Yang X, DiFazio MP, Levin SW (1999) Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin. Am J Med Genet 87:139-142
23. Magee AC, Humphreys MW, McKee S, Stewart M, Nevin NC (1998) De novo duplication 2(p12rp21) with paternally inherited pericentric inversion 2p11.22q12.2. Clin Genet 54:65-69
24. Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82
25. Huber C, Thiebe R, Hameister H, Barbi G, Zachau HG (1990) Mapping immunoglobulin kappa orphon without sequence defects may be the product of a pericentric inversion. Nucleics Acids Res 18:3475-3478
26. Zimmer F-G, Hameister H, Schek H, Zachau HG (1990) Transposition of human immunoglobulin Vk genes within the same chromosome and the mechanism of their amplification. EMBO J 9:1535-1542
27. Willatt LR, Barber JC, Clarkson A, Simonic I, Raymond FL, Docherty Z, Ogilvie CM (2007) Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/ch involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin. Eur J Hum Genet 15:45-52
28. Park JP, Wojiski SA, Spellman RA, Rhodes CH, Mohandas TK (1998) Human chromosome 9 pericentric homologies: implications for chromosome 9 heteromorphisms. Cytogenet Cell Genet 82:192-194
29. Shaw CJ, Lupski JR (2004) Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13:R57-R64
30. Bi W, Park S-S, Shaw CJ, Withers MA, Patel PI, Lupski JR (2003) Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet 73:1302-1315
31. Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig KR, Kelbova C, Senger G, et al (2002) Homologous sequences at human chromosome 9 bands p12 and q13-q21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 10:790-800