The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12

Human Genetics

Volumn 118, Issue 6, 2006, Pages 760-766

  Lecce, Rosetta ^a   Murdolo, Marina ^a   Gelli, Gianfranco ^b   Steindl, Katharina ^a   Coppola, Livia ^b   Romano, Anna ^b   Cupelli, Elisa ^a   Neri, Giovanni ^a   Zollino, Marcella ^a  

^a FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^b Clinica Sant'Anna   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 9P; CHROMOSOME ANALYSIS; CHROMOSOME MUTATION; CHROMOSOME PAINTING; CHROMOSOME POLYMORPHISM; CONTROLLED STUDY; CYTOGENETICS; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DUPLICATION; GENE LOCUS; GENE MAPPING; GENE PROBE; GENE REARRANGEMENT; GENETIC COUNSELING; GENOME ANALYSIS; HUMAN; HUMAN CELL; HUMAN GENOME; MALE; MOLECULAR CLONING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS;

ADULT; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 9; CYTODIAGNOSIS; FEMALE; FETUS; GENE DUPLICATION; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; PREGNANCY;

EID: 32444450777     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-0085-x     Document Type: Article

References (24)

1. Arcidiacono N, Pecile V, Rocchi M (1984) A rare non-heterochromatic 9p+ variant in two amniotic fluid cultures. Prenat Diagn 4:231-233
2. Barber JCK, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, Bateman MS, Green AJ, Yates JRW, Dennis NR (1998) Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet 35:491-496
3. Barber JCK, Reed CJ, Dahoun SP, Joyce CA (1999) Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum Genet 104:211-218
4. Barber JCK (2005) Directly transmitted unbalanced chromosome abnormalities and euchromotic variants. J Med Genet 42:609-629
5. Browne CE, Dennis NR, Maher E, Long SL, Nicholson J, Sillibourne J, Barber JCK (1997) Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 61:1342-1352
6. Di Giacomo MC, Cesarano C, Bukvic N, Manisali E, Guanti G, Susca F (2004) Duplication of 9 p11.2-p13.1: A benign cytogenetic variant. Prenat Diagn 24(8):619-622
7. Eichler EE (2001) Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 17:661-669
8. Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RSK, Christian SL, Ledbetter DH (2002) Organisation of the pericentromeric region of chromosome 15: At least four partial gene copies are amplified in patients with a proximal duplication of 15q. J Med Genet 39:170-177
9. Horvath JE, Bailey JA, Locke DP, Eichler EE (2001) Lessons from the human genome: Transitions between euchromatin and heterochromatin. Hum Mol Genet 10(20):2215-2223
10. Knuutila S, Björkqvist A-M, Autio K, Tarkkanen M, Wolf M, Monni O, Szymanska J, Larramendy ML, Tapper J, Pere H, El-Rifai W, Hemmer S, Wasenius V-M, Vidgren V, Zhu Y (1998) DNA copy number amplifications in human neoplasms. Review of comparative genomic hybridisation studies. Am J Pathol 152:1107-1123
11. Lichter P, Tang CJ, Call K, Hermanson G, Evans GA, Housman D, Ward DC (1990) High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247:64-69
12. Lupski JR (1998) Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits (Review). Trends Genet 103:417-422
13. Park JP, Wojiski SA, Spellman RA, Rhodes CH, Mohandes TK (1998) Human chromosome 9 pericentric homologies: Implications for chromosome 9 heteromorphisms. Cytogenet Cell Genet 82:192-194
14. R Schimke (ed) 1982 Gene amplification Cold Spring Harbor Laboratory Cold Spring Harbor
15. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M (2004) Large-scale copy number polymorphism in the human genome. Science 305:525-528
16. Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE (2005) Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77:78-88
17. She X, Horvath JE, Jiang Z, Liu G, Furey TS, Christ L, Clark R, Graves T, Golden CL, Alkan C, Bailey JA, Sahinalp C, Rocchi M, Haussler D, Wilson RK, Miller W, Schwartz S, Eichler EE (2004) The structure and evolution of centromeric transition regions within the human genome. Nature 430(7002):857-864
18. Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18(2):74-82
19. Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig KR, Kelbova C, Senger G, Albrecht B, Hansmann I, Heller A, Claussen U, Liehr T (2002) Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet Dec 10(12):790-800
20. Sullivan BA, Bickmore WA (2000) Unusual chromosome architecture and behaviour at an HSR. Chromosoma 109:181-189
21. Sutherland GR, Eyre H (1981) Two unusual G-band variants of the short arm of chromosome 9. Clin Genet 19:331-334
22. Thompson PW, Roberts SH (1987) A new variant of chromosome 16. Hum Genet 76:100-101
23. RS Verma 1988 Heterochromatin: Molecular and structural aspects Cambridge University Press New York 276-299
24. Webb GC, Krumins EJM, Eichenbaum SZ, Voullaire LE, Earle E, Choò KH (1989) Non C-banding variants in some normal families might be homogeneously staining regions. Hum Genet 82:59-62