Ann Lab Med.  2018 Jan;38(1):77-79. 10.3343/alm.2018.38.1.77.

Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development

Affiliations
  • 1Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
  • 2Department of Laboratory Medicine, Soon Chun Hyang University College of Medicine, Seoul, Korea. jkim1220@schmc.ac.kr
  • 3Department of Laboratory Medicine, Hallym University College of Medicine, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Humans

Figure

  • Fig. 1 Karyotype and microarray results of the present case. (A) A duplication in 20p was revealed by conventional G-banding chromosome analysis. (B) Chromosomal microarray revealed a subtelomeric deletion of 20p accompanied by a duplication of 20p13p12.3.


Reference

1. Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, et al. Maternally inherited partial monosomy 9p (pter --〉 p24.1) and partial trisomy 20p (pter --〉 p12.1) characterized by microarray comparative genomic hybridization. Am J Med Genet A. 2011; 155A:2754–2761. PMID: 21948691.
2. Meloni Vde F, Piazzon FB, Soares Mde F, Takeno SS, Christofolini DM, Kulikowski LD, et al. Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype. Gene. 2012; 496:59–62. PMID: 22285927.
3. Oegema R, van Zutven LJ, van Hassel DA, Huijbregts GC, Hoogeboom AJ. Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p. Eur J Med Genet. 2012; 55:265–268. PMID: 22406089.
4. Leclercq S, Maincent K, Baverel F, Tessier DL, Letourneur F, Lebbar A, et al. Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model. Am J Med Genet A. 2009; 149A:437–445. PMID: 19206177.
5. Trachoo O, Assanatham M, Jinawath N, Nongnuch A. Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features. Eur J Med Genet. 2013; 56:319–324. PMID: 23542666.
6. 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.
7. Martin MM, Vanzo RJ, Sdano MR, Baxter AL, South ST. Mosaic deletion of 20pter due to rescue by somatic recombination. Am J Med Genet A. 2016; 170A:243–248. PMID: 26436922.
8. Moutton S, Rooryck C, Toutain J, Cailley D, Bouron J, Villega F, et al. Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype? Eur J Med Genet. 2012; 55:151–155. PMID: 22274139.
9. Zhang F, Deleuze JF, Aurias A, Dutrillaux AM, Hugon RN, Alagille D, et al. Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). J Pediatr. 1990; 116:73–77. PMID: 1967307.
10. An Y, Amr SS, Torres A, Weissman L, Raffalli P, Cox G, et al. SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2013; 162B:832–840. PMID: 24019301.
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