Ann Lab Med.  2020 May;40(3):277-280. 10.3343/alm.2020.40.3.277.

De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review

Affiliations
  • 1Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea. jakwon83@korea.ac.kr
  • 2Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
  • 3Department of Laboratory Medicine, Catholic University College of Medicine, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Trisomy*

Figure

  • Fig. 1 Chromosome analysis and array CGH. (A) Karyotype of the patient showing the marker chromosome (arrow). (B) Detailed views of the microarray plots for the patient. The horizontal axis shows megabases (Mb) from the chromosome 20 (26.06 Mb duplication), and the vertical axis shows the fold-change in copy number variation (red dot: patient DNA tagged with red fluorescence, green dot: reference control DNA tagged with red fluorescence).Abbreviation: CGH, comparative genomic hybridization.


Reference

1. Oppenheimer S, Dignan P, Soukup S. Partial trisomy 20p: familial occurrence. Am J Med Genet. 2000; 95:316–319. PMID: 11186883.
2. Centerwall W, Francke U. Familial trisomy 20p five cases and two carriers in three generations a review. Ann Genet. 1977; 20:77–83. PMID: 302689.
3. Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G. 20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome. Clin Genet. 1992; 41:285–289. PMID: 1623622.
4. Kang JE, Park MY, Cheon CK, Lee HD, Hwang SH, Yi J. A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion. Ann Lab Med. 2012; 32:91–94. PMID: 22259786.
5. Liehr T. Small supernumerary marker chromosomes. Updated on Nov 2018. http://ssmc-tl.com/sSMC.html.
6. van Langen IM, Otter MA, Aronson DC, Overweg-Plandsoen WC, Hennekam RC, Leschot NJ, et al. Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. Clin Genet. 1996; 49:49–53. PMID: 8721573.
7. Sidwell R, Pinson M, Gibbons B, Byatt S, Svennevik E, Hastings RJ, et al. Pure trisomy 20p resulting from isochromosome formation and whole arm translocation. J Med Genet. 2000; 37:454–458. PMID: 10928855.
8. Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attié-Bitach T, et al. De novo trisomy 20p of paternal origin. Am J Med Genet A. 2007; 143A:1100–1103. PMID: 17431912.
9. Bartolini L, Sartori S, Lenzini E, Rigon C, Cainelli E, Agrati C, et al. De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature. Gene. 2013; 524:368–372. PMID: 23612255.
10. Izumi K, Kubota N, Arakawa M, Takayama M, Harada Y, Nakamura T, et al. Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: combinatorial effect of gene dosage and uniparental disomy. Am J Med Genet A. 2015; 167:1289–1293. PMID: 25847371.
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