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

Chris R. Schad, Daniel G. Kuffel, William A. Wyatt, Alan R. Zinsmeister, Robert Brian Jenkins, Gordon W. Dewald, Syed M. Jalal

Research output: Contribution to journalArticle

17 Citations (Scopus)

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 whenever possible.

Original languageEnglish (US)
Pages (from-to)187-192
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume66
Issue number2
DOIs
StatePublished - Dec 11 1996

Fingerprint

Sex Chromosomes
Cheek
Y Chromosome
X Chromosome
Fluorescence In Situ Hybridization
Mosaicism
Chromatin
Chromosomes
Aneuploidy
Costs and Cost Analysis

Keywords

  • buccal smear
  • FISH
  • sex chromosome aneusomy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis. / Schad, Chris R.; Kuffel, Daniel G.; Wyatt, William A.; Zinsmeister, Alan R.; Jenkins, Robert Brian; Dewald, Gordon W.; Jalal, Syed M.

In: American Journal of Medical Genetics, Vol. 66, No. 2, 11.12.1996, p. 187-192.

Research output: Contribution to journalArticle

Schad, Chris R. ; Kuffel, Daniel G. ; Wyatt, William A. ; Zinsmeister, Alan R. ; Jenkins, Robert Brian ; Dewald, Gordon W. ; Jalal, Syed M. / Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis. In: American Journal of Medical Genetics. 1996 ; Vol. 66, No. 2. pp. 187-192.
@article{7b5259608fe94b5bbeb46929d727ec21,
title = "Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis",
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 whenever possible.",
keywords = "buccal smear, FISH, sex chromosome aneusomy",
author = "Schad, {Chris R.} and Kuffel, {Daniel G.} and Wyatt, {William A.} and Zinsmeister, {Alan R.} and Jenkins, {Robert Brian} and Dewald, {Gordon W.} and Jalal, {Syed M.}",
year = "1996",
month = "12",
day = "11",
doi = "10.1002/(SICI)1096-8628(19961211)66:2<187::AID-AJMG12>3.0.CO;2-P",
language = "English (US)",
volume = "66",
pages = "187--192",
journal = "American Journal of Medical Genetics, Part A",
issn = "0148-7299",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis

AU - Schad, Chris R.

AU - Kuffel, Daniel G.

AU - Wyatt, William A.

AU - Zinsmeister, Alan R.

AU - Jenkins, Robert Brian

AU - Dewald, Gordon W.

AU - Jalal, Syed M.

PY - 1996/12/11

Y1 - 1996/12/11

N2 - 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 whenever possible.

AB - 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 whenever possible.

KW - buccal smear

KW - FISH

KW - sex chromosome aneusomy

UR - http://www.scopus.com/inward/record.url?scp=0030458115&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030458115&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19961211)66:2<187::AID-AJMG12>3.0.CO;2-P

DO - 10.1002/(SICI)1096-8628(19961211)66:2<187::AID-AJMG12>3.0.CO;2-P

M3 - Article

C2 - 8958328

AN - SCOPUS:0030458115

VL - 66

SP - 187

EP - 192

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 0148-7299

IS - 2

ER -