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Report on the External Quality Assessment Scheme for Cytogenetics and Molecular Cytogenetics in Korea (2016–2017)
J Lab Med Qual Assur 2018;40:188-198
Published online December 31, 2018
© 2018 Korean Association of External Quality Assessment Service.

Jieun Kim1, Saeam Shin2, Borahm Kim3, Seung-Tae Lee3, Myungshin Kim4, and Jong Rak Choi3

1Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine; 2Department of Laboratory Medicine, Hallym University Kangnam Sacred Heart Hospital; 3Department of Laboratory Medicine, Yonsei University College of Medicine; 4Department of Laboratory Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
Correspondence to: Jong Rak Choi
Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonseiro, Seodaemun-gu, Seoul 03722, Korea
Tel: +82-2-2228-2441, Fax: +82-2-364-1583
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
In both 2016 and 2017, the cytogenetic and molecular cytogenetic programs conducted three assessments for the Korean Association of External Quality Assessment Service. A total of six cases with chromosomal aberrations were distributed in 2016, and nine cases were examined in 2017 in the chromosome surveys. For the fluorescence in situ hybridization surveys, six cases and nine cases were assessed in 2016 and 2017, respectively. A total of 38 laboratories in 2016 and 39 laboratories in 2017 participated in the cytogenetics program. In the molecular cytogenetics program, a total of 32 laboratories participated in 2016, and 31 laboratories participated in 2017. Most of the participating laboratories showed acceptable results for the cytogenetics and molecular cytogenetics programs. For the unacceptable results, there were various annotation errors, suggesting the need for continuous education and quality control.
Keywords : Laboratory proficiency testing, External quality assurance, Cytogenetics, Fluorescence in situ hybridization
  1. Lee YW, Jeon BR, Kim JG, Jun SH, Yun YM, Chun S, et al. Annual report on the external quality assessment scheme for routine clinical chemistry in Korea (2016). J Lab Med Qual Assur 2017;39:61-75.
  2. Hu P, Wang Y, Meng LL, Qin L, Ma DY, Yi L, et al. 1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation. Mol Cytogenet 2013;6:30.
    Pubmed KoreaMed CrossRef
  3. Thienpont B, Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H, Kitsiou-Tzeli S, et al. Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. Eur J Med Genet 2009;52:393-7.
    Pubmed CrossRef
  4. Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, et al. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet A 2011;155A:1336-51.
    Pubmed KoreaMed CrossRef
  5. Hayashi S, Yagi M, Morisaki I, Inazawa J. Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent. J Hum Genet 2015;60:203-6.
    Pubmed CrossRef
  6. Castiglione A, Guaran V, Astolfi L, Orioli E, Zeri G, Gemmati D, et al. Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature. Cytogenet Genome Res 2013;141:243-59.
    Pubmed CrossRef
  7. Carella M, Spreafico F, Palumbo O, Storlazzi CT, Tabano S, Miozzo M, et al. Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: cytogenetic, molecular and clinico-pathological studies. Am J Med Genet A 2010;152A:1756-63.
    Pubmed CrossRef