Application of Interphase Fluorescent in Situ Hybridization: a Screening Tool for the Diagnosis of Microdeletion Syndrome

Kyong Ok Im, Soon Ok Kim, Jung Sun Lee, Soo Hee Park, Sung Min Kim, Hee Sue Park, Suhng Wook Kim, Jung Ah Kim, Dong Soon Lee

Research output: Contribution to journalArticlepeer-review


Background: Most laboratories adopt the results of metaphase fluorescent in situ hybridization (FISH) for the diagnosis of microdeletion syndromes. To investigate the discrepancy between the results of interphase and metaphase, we compared the quantitative results of FISH for 5 kinds of microdeletion syndrome and gender determination disorders (SDD). Methods: A total of 282 (135 for DiGeorge syndrome, 20 for Kalmann syndrome, 7 for Miller-Dieker syndrome, 38 for Prader Willi/Angelman syndrome, 62 for Williams syndrome, and 20 for SDD (SRY FISH)) were enrolled. For SRY FISH, we artificially mixed fresh blood of male and female with various ratios and then compared the results of metaphase and interphase SRY FISH. Using a bio-cell chip, we performed interphase FISH in 168 patients with microdeletion syndromes and compared the results with manual interphase. Results: The concordance rate between the results of metaphase and interphase was 100% in microdeletion syndrome. In the disorders of gender development, SRY FISH showed 100% concordance between interphase and metaphase when we counted 50 metaphase cells and 100 interphase cells. Comparison with mixtures of male and female blood at various ratios also showed 100% concordance. The results of bio-cell chip showed 100% concordance between previous interphase FISH results. Conclusions: Considering the complete concordance between interphase and metaphase in microdeletion syndrome, the application of interphase FISH without performing metaphase FISH can be a screening test for microdeletion syndrome. Confirmation by metaphase FISH can be performed only in cases with abnormal results by interphase FISH.

Original languageEnglish
Pages (from-to)791-798
Number of pages8
JournalClinical Laboratory
Issue number4
Publication statusPublished - 2022

Bibliographical note

Funding Information:
This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (NRF-2017R1A2A1A17069780).

Publisher Copyright:
© 2022 Verlag Klinisches Labor GmbH. All rights reserved.


  • FISH
  • bio-cell chip
  • interphase
  • metaphase
  • microdeletion syndrome

ASJC Scopus subject areas

  • General Biochemistry,Genetics and Molecular Biology


Dive into the research topics of 'Application of Interphase Fluorescent in Situ Hybridization: a Screening Tool for the Diagnosis of Microdeletion Syndrome'. Together they form a unique fingerprint.

Cite this