Chromosome duplications and deletions and their mechanisms of origin

Cytogenetics and Cell Genetics

Volumn 85, Issue 3-4, 1999, Pages 285-290

  Tharapel, A T ^a   Michaelis, R C ^b   Velagaleti, G V N ^a   Laundon, C H ^c,d   Martens, P R ^a   Buchanan, P D ^c,d   Teague, K E ^e   Tharapel, S A ^a,f   Wilroy Jr , R S ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c GeneCare Medical Genetics Center   (United States)

^d GEORGE WASHINGTON UNIVERSITY   (United States)

^e NAVAL MEDICAL CENTER PORTSMOUTH   (United States)

^f VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MOLECULAR GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; SISTER CHROMATID EXCHANGE; YEAST ARTIFICIAL CHROMOSOME;

EID: 0032789875     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000015314     Document Type: Article

References (35)

1. van Balkom IDC, Hagendoorn J, de Pater JM, Hennekam RCM: Partial monosomy 8p and partial trisomy 8p with moderate mental retardation. Genet Counsel 3:83-89 (1992).
2. Bekri S, Adelaide J, Merscher S, Grosgeorge J, Varoli-Bosc F, Perucca-Lostanlen D, Kelley PM, Pebusque M-J, Theillet C, Birnbaum D, Gaudray P: Detailed map of a region commonly amplified at 11q13→q14 in human breast carcinoma. Cytogenet Cell Genet 79:125-131 (1997).
3. Blair IP, Nash J, Gordon MJ, Nicholson GA: Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am J hum Genet 58:472-476 (1996).
4. Brown A, Phelan MC, Patil S, Crowford E, Rogers RC, Schwartz C: Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? Am J med Genet 63:373-377 (1996).
5. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum molec Genet 3: 223-228 (1994).
6. Cohen D, Chumakov I, Weissenbach J: A first generation physical map of the human genome. Nature 366:698-701 (1993).
7. de Die-Smulders CEM, Engelen JJM, Schrander-Stumpel CTRM, Govaerts LCP, de Vries B, Vles JSH, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP: Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J med Genet 59:369-374 (1995).
8. Djabali M, Selleri L, Parry P, Bower M, Young BD, Evans GA: A trithorax gene is interrupted by chromosome 11q23 translocations in acute leukemias. Nature Genet 2:113-118 (1992); see also the Erratum in Nature Genet 4:431 (1993).
9. Evans GA, Lewis AK, Lawless GM: The molecular organization of the human CD3 gene family on chromosome 11q23. Immunogenetics 28:365-373 (1988).
10. Feldman GL, Weiss, L, Phelan MC, Schroer RJ, Van Dyke DL: Inverted duplication of 8p: ten new patients and review of the literature. Am J med Genet 47:482-486 (1993).
11. Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalpra L, Wood S, Danesino C, Zuffardi O: The same molecular mechanism at the maternal meiosis I produces mono-and dicentric 8p duplications. Am J med Genet 58:785-796 (1996).
12. Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitun P, Tournade MF, Landrieu P, Junien C: Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J hum Genet 1:19-29 (1993).
13. Jones C, Penney L, Mattina T, Yu S, Baker E, Voullarie L, Langdon WY, Sutherland GR, Richards RI, Tunnacliffe A: Association of a chromosome deletion syndrome with a fragile site within the protooncogene CBL2. Nature 376:145-149 (1995).
14. Lopes J, Ravise N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Levy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E: Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum molec Genet 7:141-148 (1998).
15. Magenis RE, Brown MG, Allen L, Reiss J: De novo partial duplication of 17p [dup (17)(p12→p11.2)]: clinical report. Am J med Genet 24:415-420 (1986).
16. McCabe NR, Brunett RC, Gill HJ, Thirman MJ, Mbangkollo D, Kipiniak M, van Melle E, Ziemin van der Poel S: Cloning of cDNAs of the MLL gene that detect DNA rearrangements and altered RNA transcripts in human leukemic cells with 11q23 translocations. Proc natl Acad Sci, USA 89:11794-11798 (1992).
17. Michaelis RC, Velagaleti GVN, Jones C, Pivnick EK, Phelan MC, Boyd E, Tarleton J, Wilroy RS, Tunnacliffe A, Tharapel AT: Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Am J med Genet 76:222-228 (1998).
18. Nguyen C, Roux D, Mattei MG, de-Lapeyriere O, Goldfarb M, Birnbaum D, Jordan BR: The FGF-related oncogenes HSTt and INT2, and the BCL1 locus are contained within one megabase in band q13 of chromosome 11, while the FGF.5 oncogene maps to 4q21. Oncogene 3:703-708 (1988).
19. Palau F, Lofgren A, De Jonghe P, Bort S, Neils E, Sevilla T, Martin JJ, Vilchez J, Prieto F, van Broeckhoven C: Origin of de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum molec Genet 2:2031-2035 (1993).
20. Papadopoulos PC, Greenstein AM, Gaffney RA, Westbrook CA, Wiedemann LM: Characterization of the translocation breakpoint sequences in Philadelphia positive acute lymphoblastic leukemia. Genes Chrom Cancer 1:233-239 (1990).
21. Patil SR, Bartley JA: Interstitial deletion of the short arm of chromosome 17. Hum Genet 67:237-238 (1984).
22. Penny LA, Dell'Aquila M, Jones CM, Bergoffen J, Cunniff C, Fryns J-P, Grace E, Graham JM, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones OW, Evans GA: Clinical and molecular characterization of patients with distal 11q deletions. Am J hum Genet 56:676-683 (1995).
23. Pentao L, Wise C, Chinault C, Patel P, Lupski J: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet 2:292-300 (1992).
24. Perucca-Lostanlen D, Hecht BK, Courseaux A, Grosgeorge J, Hecht F, Gaudry P: Mapping FRA11A, a folate-sensitive fragile site in human chromosome band 11q13.3. Cytogenet Cell Genet 79:88-91 (1997).
25. Pescia G, Tonella A, Jotterand-Bellomo M: Monosomie/trisomie 4q12-q13 en mosaique chez une enfant arrieree et dysmorphique. Annls Génét 25:110-112 (1982).
26. Pivnick EK, Velagaleti GVN, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT: Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and a review of 52 cases. J med Genet 33:772-778 (1996).
27. Robinson WP, Binkert F, Gine R, Vazquez C, Muller W, Rosenkranz W, Schinzel A: Clinical and molecular analysis of five inv dup(15) patients. Eur J hum Genet 1:37-50 (1993).
28. Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel A: The mechanisms involved in formation of deletions and duplications of 15q11→q13. J med Genet 35:130-136 (1998).
29. Rigby PW, Dickmann M, Rhodes C, Berg P: Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J molec Biol 113:237-251 (1977).
30. Shows TB, Alders M, Bennett D, Burbee P, Cartwright S, Chandrasekharappa P, Cooper A, Courseaux A, Davies C, Devignes M-D, Devilee P, Elliott R, Evans G, Fantes J, Garner H, Gaudray P, Gerhard DS, Gessler M, Higgins M, Hummerich H, James M, Lagercrantz J, Litt M, Little P, Mannens M, Munroe D, Nowak N, O'Brien S, Parker N, Perlin M, Reid L, Richard C, Sawicki M, Swallow D, Thakker R, van Heyningen V, van Schothorst E, Vorechovsky I, Wadelius C, Weber B, Zabel B: Report of the fifth international workshop on human chromosome 11 mapping. Cytogenet Cell Genet 74:1-56 (1996).
31. Smith, ACM, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, Lahr M, Allen L, Magenis E: Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J med Genet 24:393-414 (1986).
32. Stratton RF, Dobyns WB, Greenberg F, DeSana JB, Moore C, Fidone G, Runge GH, Feldman P, Sekhon GS, Pauli RM, Ledbetter DH: Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J med Genet 24:421-432 (1986).
33. Sutherland GR, Hecht F: Fragile sites on human chromosomes, pp 207-242 (Oxford University Press, New York 1985).
34. Timmerman V, Lofgren A, Le Guern E, Liang P, De Jonghe JJ, Verhalle D, Robberecht W, Gouider R, Brice A, van Broeckhoven C: Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP). Hum Genet 97:26-34 (1996).
35. Wang L, Paradee W, Mullins C, Shridhar R, Rosati R, Wilke CM, Glover TW, Smith DI: Aphidicolin-induced FRA3B breakpoints cluster in two distinct regions. Genomics 41:485-488 (1997).