Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis

American Journal of Medical Genetics
C R SchadS M Jalal

Abstract

Conventional X- and Y-chromatin and fluorescent in situ hybridization (FISH) analysis based on X- and Y-chromosome specific probes were conducted from buccal smear, on 15 normal males, 15 normal females, and 9 cases suspected of sex chromosome anomalies. The proportion of X- and Y-chromatin in normal females and males was 12% +/- 3% and 51.5% +/- 4.9%, respectively, by the conventional X- and Y-chromatin procedure. The CEP-X/Y analysis by FISH for the same specimens provided a proportion of 98.8% +/- 0.7% cells with XX signals in the normal females and 99.8% +/- 0.4% cells with XY signals in the normal males. The FISH method was superior to the conventional procedure in nine cases suspected of sex chromosome anomalies, including one case of mosaicism. The results of CEP-X/Y will sometimes be false; it will not detect structural anomalies of sex chromosomes, and it is not intended to detect low level mosaicism. However, the test is useful for rapid screening of sex chromosome aneuploidy at a fraction of the cost for chromosome analysis. The FISH test is also appropriate to detect tissue specific sex chromosome mosaicism, especially if it is relatively high. This FISH test is best used as an adjunct to chromosome analysis wheneve...Continue Reading

References

May 1, 1988·Human Genetics·T AlitaloA de la Chapelle
Dec 1, 1987·American Journal of Medical Genetics·D E HorsmanD K Kalousek

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Citations

Aug 26, 1998·Molecular Pathology : MP·J J WatersC P Gould
May 16, 2009·Nature Protocols·Philip ThomasMichael Fenech
Aug 1, 1997·Mayo Clinic Proceedings·S M Jalal, M E Law
Mar 7, 2014·Scientific Reports·Mariam SaidZohreh Tatari-Calderone
Jan 9, 2013·Arquivos brasileiros de endocrinologia e metabologia·Andréa Trevas Maciel-GuerraGil Guerra-Júnior
May 26, 1999·American Journal of Medical Genetics·D Babovic-VuksanovicS M Jalal
Feb 28, 2003·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Orit ReishAliza Amiel
Jun 4, 1998·Clinical Genetics·D Babovic-VuksanovicS M Jalal
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Jun 18, 2014·Arquivos brasileiros de endocrinologia e metabologia·Juliana de PauloAndréa Trevas Maciel-Guerra
Apr 10, 2019·Nature Protocols·Koh-Ei ToyoshimaTakashi Tsuji

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