Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
Article first published online: 9 OCT 2013
© 2013 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
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Clinical Case Reports
Volume 1, Issue 2, pages 50–53, December 2013
How to Cite
Clinical Case Reports 2013; 1(2): 50–53
- Issue published online: 12 DEC 2013
- Article first published online: 9 OCT 2013
- Manuscript Accepted: 26 AUG 2013
- Manuscript Revised: 9 AUG 2013
- Manuscript Received: 10 JUN 2013
- chromosome 21;
- Down syndrome;
- interphase FISH;
- metaphase FISH
Key Clinical Message
Maternal serum screening–positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46,XY). Further analyses proved that the fetus had extremely complex rearrangements of chromosome 21, including the interstitial duplication of Down syndrome critical region.