Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
권호 표지
DOI QR코드

DOI QR Code

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

  • Received : 2013.05.01
  • Accepted : 2013.06.04
  • Published : 2013.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.

Keywords

References

  1. Iourov IY, Vorsanova SG, Yurov YB. Chromosomal mosaicism goes global. Mol Cytogenet 2008;1:26. https://doi.org/10.1186/1755-8166-1-26
  2. Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Natural history of mosaic trisomy 14 syndrome. Am J Med Genet 1992;44:189-96. https://doi.org/10.1002/ajmg.1320440214
  3. Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, et al. Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A 2008;146A:1395-405. https://doi.org/10.1002/ajmg.a.32287
  4. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 2007;143A:1679-86. https://doi.org/10.1002/ajmg.a.31740
  5. von Sneidern E, Lacassie Y. Is trisomy 14 mosaic a clinically recognizable syndrome?--case report and review. Am J Med Genet A 2008;146A: 1609-13. https://doi.org/10.1002/ajmg.a.32334
  6. Petersen MB, Vejerslev LO, Beck B. Trisomy 14 mosaicism in a 2 year old girl. J Med Genet 1986;23:86-8. https://doi.org/10.1136/jmg.23.1.86
  7. Vachvanichsanong P, Jinorose U, Sangnuachua P. Trisomy 14 mosaicism in a 5-year-old boy. Am J Med Genet 1991;40:80-3. https://doi.org/10.1002/ajmg.1320400116
  8. Lipson MH. Trisomy 14 mosaicism syndrome. Am J Med Genet 1987; 26:541-4. https://doi.org/10.1002/ajmg.1320260305
  9. Lynch MF, Fernandes CJ, Shaffer LG, Potocki L. Trisomy 14 mosaicism: A case report and review of the literature. J Perinatol 2004;24:121-3. https://doi.org/10.1038/sj.jp.7211048
  10. Johnson VP, Aceto Jr T, Likness C. Trisomy 14 mosaicism: case report and review. Am J Med Genet 1979;3:331-9. https://doi.org/10.1002/ajmg.1320030404
  11. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-64. https://doi.org/10.1016/j.ajhg.2010.04.006
  12. Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, et al. Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. Genet Med 2007;9:150-62. https://doi.org/10.1097/GIM.0b013e3180312087
  13. Moon JS, Lee SY, Nam CM, Choi JM, Choe BK, Seo JW, et al. 2007 Korean National Growth Charts: review of developmental process and an outlook. Korean J Pediatr 2008;51:1-25. https://doi.org/10.3345/kjp.2008.51.1.1
  14. Kotzot D. Complex and segmental uniparental disomy updated. J Med Genet 2008;45:545-56. https://doi.org/10.1136/jmg.2008.058016
  15. Hur YJ, Hwang T. Complete trisomy 14 mosaicism: first live-born case in Korea. Korean J Pediatr 2012;55:393-6. https://doi.org/10.3345/kjp.2012.55.10.393
  16. Ledbetter DH, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 1995;4 Spec No:1757-64. https://doi.org/10.1093/hmg/4.suppl_1.1757
  17. Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 2006;14:1158-69. https://doi.org/10.1038/sj.ejhg.5201619
  18. Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, et al. Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. Am J Med Genet A 2007; 143A:2165-71. https://doi.org/10.1002/ajmg.a.31896
  19. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006;140:2757-67.