A 9p13 to p24 duplication coupled with a whole 22q translocation onto 9p24

• Autorzy: Rivera H , Vasquez-Valasquez A.I. , de Lourdes Ramirez-Duenas M. , Becerra-Solano L.E.
• Języki publikacji: EN

Abstrakty

EN

We report on a 3-year-old girl with a typical 9p trisomy syndrome, whose 45-chromosome karyotype includes a 9p+. As assessed by G, C and Ag-NOR bands, the rearranged chromosome resulted from a 9p13—>p24 direct duplication coupled with a translocation of the whole 22q onto 9pter, had heterochromatin at the junction site, lacked both nucleolar organizing regions (NORs) and centromere dots at the unconstricted fusion point, and was present in all metaphases scored. FISH results: a 9p subtelomere probe gave a diminished signal on the 9p+ precisely at the duplication junction 9p24::9pl3, but no labeling was observed at the 9;22 translocation site; a pancentromeric alphoid probe labeled all centromeres, and gave a distinct signal at the 9pter;22cen junction. Hence, her karyotype was 45,XX,rea(9;22)(9qter—>9p24::9pl3—>9p24::22p10—>22qter).ish rea(9;22)(9psubtel+ dim,pancen+). Parental chromosomes were normal. The distinctiveness of the present centromere-telomere fusion rests on the coupling of an intrachromosomal distal duplication with a whole-arm translocation including alphoid DNA onto the duplicated segment. The centromeric inertia of the residual alphoid DNA in the present case compares with the variable functional status of the chromosome 22 centromere in true heterodicentrics involving such a chromosome.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2007
• Tom: 48
• Numer: 1
• Strony: 95-98
• Opis fizyczny: p.95-98,fig.,ref.

Twórcy

autor

Rivera H

• Centro de Investigacion Biomedica de Occidente, IMSS, Ap. Postal 1-3838, Guadalajara, Jal., Mexico

autor

Vasquez-Valasquez A.I.

autor

de Lourdes Ramirez-Duenas M.

autor

Becerra-Solano L.E.

Bibliografia

• Callen DF, Sutherland GR, Carter RF, 1987. A fertile man with tdic(Y;22): how a stable neo-XlX2Y sex-determining mechanism could evolve in man. Am J Med Genet Suppl 3: 151-155.
• Fan YS, Siu VM, 2001. Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3—>p23.3 and a rearranged duplication of 8q24.13—>qter. Am J Med Genet 102: 266-271.
• ISCN, 2005. An International System for Human Cytogenetic Nomenclature. Shaffer LG, Tommerup N, S Karger, eds. Basel.
• Kostiner DR, Nguyen H, Cox VA, Cotter PD, 2002. Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q. Cytogenet Genome Res 98: 9-12.
• Krueger A, Reichi R, Stankiewicz P, Hansmann I, 2001. Learning difficulties, minor dysmorphic features and interstitial telomeric sequences in a boy with 45,XY and a 5;22 translocation. Am J Hum Genet 69: 321.
• Josifova DJ, Mazzaschi R, Ballard T, Ogilvie CM, Splitt M, 2006. A constitutional telomeric translocation showing meiotic instability. Am J Med Genet Part A 140A: 1228-1233.
• Pater de JM, Ippel PF, van Dam WM, Loneus WH, Engelen JJM, 2002. Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro) FISH. Clin Genet 62: 482-487.
• Petit P, Devriendt K, Veermesch JR, Meireleire J, Fryns JP, 1998. Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p). Genet Counsel 9: 215-221.
• Ravel de TJL, Fryns JP, van Driessche J, Veermesch JR, 2004. Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation. Am J Med Genet Part A 124A: 259-262.
• Reddy KS, Murphy T, 2000. Fusion of 9 beta-satellite and telomere (TTAGGG)ⁿ sequences results in a jumping translocation. Hum Genet 107: 268-275.
• Rivera H, Figuera LE, Vasquez AI, 1992. Translocation/duplication of 9p onto a duplicated 4q. Genet Counsel 3: 201-203.
• Rivera H, Vasquez AI, Perea FJ, 1999. Centromere-telomere (12;8p) fusion, telomeric 12q translocation, and i(12p) trisomy. Clin Genet 55: 122-126.
• Roberts SH, Howell RT, Laurence KM, Heathcote ME, 1977. Stable dicentric autosome, tdic(8:22) (p23:pl3). J Med Genet 14: 66-68.
• Rossi E, Floridia G, Casali M, Danesino C, Chiumello G, Bernardi F, et al. 1993. Types, stability, and phenotype consequences of chromosome rearrangements leading to interstitial telomeric translocations. J Med Genet 30: 926-931.
• Sidwell RU, Pinson M-P, Gibbons B, Byatt S-A, Svennevick EC, Hastings RJ, Flynn DM, 2000. Pure trisomy 20p resulting from isochromosome formation and whole arm translocation. J Med Genet 37: 454-458.
• Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, et al. 2003. Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet 12: 1823-1837.
• Vásquez-Velásquez AI, Arnaud-López L, Figuera LE, Padilla-Gutiérrez JR, Rivas F, Rivera H, 2005. Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24). J Appl Genet 46: 415-418.
• Zahed L, Oreibi G, El-Amine H, Obeid M, Bitar FF, 2004. A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation. Am J Med Genet Part A 128A: 60-62.
• Zneimer SM, Cotter PD, Stewart SD, 2000. Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosomes 7 of chromosome 7p11.2—>p15.1: phenotype consequences and possible mechanisms. Clin Genet 58: 129-133.