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2012, Número 1

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Rev Cub Gen 2012; 6 (1)


The inv dup (15) or idic(15) syndrome: a case report

Méndez RLA, Cruz MT, Garnier ÁT, Hernández GJ, Barrios MA

Idioma: Ingles.
Referencias bibliográficas: 15
Paginas: 61-63
Archivo PDF: 667.53 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Dennis NR, Veltman MWM, Thompson R, Craig E,. Bolton PF, Thomas NS. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet. 2006;140A: 434-441.

  2. Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci USA. 1986;83: 4408-4412.

  3. Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter D. Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet. 1999;8:1025-1037.

  4. Makoff AJ, Flomen RH. Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol. 2007; 8R:114.

  5. Maraschio P, Cuococ C, Gimelli G, Zuffardi O, Tiepolo L Origin and clinical significance of inv dup (15). In: The cytogenetics of mammalian autosomal rearrangements, Edited by: A. Danil, New York: Alan R. Liss; 1988 pp. 615-634.

  6. Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F, Schwartz S. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet. 1994;54:748-756.

  7. Crolla JA, Harvey JF, Sitch FL, Dennis N Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 1995; 95:161-170.

  8. Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH. Refined molecular characterization of the breakpoints in small inv dup (15) chromosomes. Hum Genet. 1997;99:11-17.

  9. Robinson WP, Binkert F, Giné R, Vazquez C, Müller W, Rosenkranz W, Schinzel A. Clinical and molecular analysis of five inv dup (15) patients. Eur J Hum Genet. 1993; 1:37-50.

  10. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjöld M. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J Med Genet. 1995;55:85-94.

  11. Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, LaSalle JM, Schanen NC. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. BMC Genetics. 2008;9:2.

  12. Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet Journal of Rare Diseases. 2008;3:30. URL disponible en: http://www.ojrd.com/content/3/1/30.

  13. Schinzel A, Niedrist D Chromosome imbalances associated with epilepsy. Am J Med Genet. (Semin Med Genet) 2001;106:119-124.

  14. Amos- Langraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat, AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet. 1999;65:370-86.

  15. Velázquez L, Sánchez G, Santos N, Almaguer LE, Escalona K, Rodríguez R, Paneque M, Laffita J M, Rodríguez JC, Aguilera R, González Y, Coello D, Almaguer D, Jorge-Cedeño H. Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguín. Neuroscience Letters. 2009;454:157-160.




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