Testing for sex chromosome mosaicism in Turner syndrome

Daniel L. Van Dyke, Anne E. Wiktor

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Ullrich-Turner syndrome (UTS) is frequently associated with chromosomal mosaicism. Conventional cytogenetic studies identify sex chromosome mosaicism in approximately 55% of patients. Roughly 2% of UTS patients who are mosaic exhibit a cell population with 46,XY or a structural rearrangement of the Y chromosome. Such patients are at an increased risk of gonadoblastoma and occasionally more clinically significant gonadal tumors. For UTS patients with a monosomy X karyotype result, we developed and validated a FISH assay to identify low level mosaicism for an XY or XX cell population, or an X or Y structural rearrangement. We have tested 44 patients with monosomy X for sex chromosomal mosaicism using FISH. A second cell line was identified in 10 patients (23%), 6 with X/XX, 1 X/i(X), and 3 X/dic(X). None of the patients studied thus far with FISH have exhibited a Y-chromosome cell population. FISH as an adjunct to karyotype analysis is useful to identify sex chromosome mosaicism in UTS patients, and has increased the rate of identification of mosaicism from 55% to 67%.

Original languageEnglish (US)
Pages (from-to)9-12
Number of pages4
JournalInternational Congress Series
Volume1298
DOIs
StatePublished - Oct 2006

Fingerprint

Turner Syndrome
Sex Chromosomes
Mosaicism
Y Chromosome
Karyotype
Gonadoblastoma
Population
Cytogenetics
Cell Line

Keywords

  • Sex chromosome mosaicism
  • Turner syndrome

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Testing for sex chromosome mosaicism in Turner syndrome. / Van Dyke, Daniel L.; Wiktor, Anne E.

In: International Congress Series, Vol. 1298, 10.2006, p. 9-12.

Research output: Contribution to journalArticle

Van Dyke, Daniel L. ; Wiktor, Anne E. / Testing for sex chromosome mosaicism in Turner syndrome. In: International Congress Series. 2006 ; Vol. 1298. pp. 9-12.
@article{75707fc1e401471c828897e6ccd9e8c9,
title = "Testing for sex chromosome mosaicism in Turner syndrome",
abstract = "Ullrich-Turner syndrome (UTS) is frequently associated with chromosomal mosaicism. Conventional cytogenetic studies identify sex chromosome mosaicism in approximately 55{\%} of patients. Roughly 2{\%} of UTS patients who are mosaic exhibit a cell population with 46,XY or a structural rearrangement of the Y chromosome. Such patients are at an increased risk of gonadoblastoma and occasionally more clinically significant gonadal tumors. For UTS patients with a monosomy X karyotype result, we developed and validated a FISH assay to identify low level mosaicism for an XY or XX cell population, or an X or Y structural rearrangement. We have tested 44 patients with monosomy X for sex chromosomal mosaicism using FISH. A second cell line was identified in 10 patients (23{\%}), 6 with X/XX, 1 X/i(X), and 3 X/dic(X). None of the patients studied thus far with FISH have exhibited a Y-chromosome cell population. FISH as an adjunct to karyotype analysis is useful to identify sex chromosome mosaicism in UTS patients, and has increased the rate of identification of mosaicism from 55{\%} to 67{\%}.",
keywords = "Sex chromosome mosaicism, Turner syndrome",
author = "{Van Dyke}, {Daniel L.} and Wiktor, {Anne E.}",
year = "2006",
month = "10",
doi = "10.1016/j.ics.2006.06.002",
language = "English (US)",
volume = "1298",
pages = "9--12",
journal = "International Congress Series",
issn = "0531-5131",
publisher = "Elsevier BV",

}

TY - JOUR

T1 - Testing for sex chromosome mosaicism in Turner syndrome

AU - Van Dyke, Daniel L.

AU - Wiktor, Anne E.

PY - 2006/10

Y1 - 2006/10

N2 - Ullrich-Turner syndrome (UTS) is frequently associated with chromosomal mosaicism. Conventional cytogenetic studies identify sex chromosome mosaicism in approximately 55% of patients. Roughly 2% of UTS patients who are mosaic exhibit a cell population with 46,XY or a structural rearrangement of the Y chromosome. Such patients are at an increased risk of gonadoblastoma and occasionally more clinically significant gonadal tumors. For UTS patients with a monosomy X karyotype result, we developed and validated a FISH assay to identify low level mosaicism for an XY or XX cell population, or an X or Y structural rearrangement. We have tested 44 patients with monosomy X for sex chromosomal mosaicism using FISH. A second cell line was identified in 10 patients (23%), 6 with X/XX, 1 X/i(X), and 3 X/dic(X). None of the patients studied thus far with FISH have exhibited a Y-chromosome cell population. FISH as an adjunct to karyotype analysis is useful to identify sex chromosome mosaicism in UTS patients, and has increased the rate of identification of mosaicism from 55% to 67%.

AB - Ullrich-Turner syndrome (UTS) is frequently associated with chromosomal mosaicism. Conventional cytogenetic studies identify sex chromosome mosaicism in approximately 55% of patients. Roughly 2% of UTS patients who are mosaic exhibit a cell population with 46,XY or a structural rearrangement of the Y chromosome. Such patients are at an increased risk of gonadoblastoma and occasionally more clinically significant gonadal tumors. For UTS patients with a monosomy X karyotype result, we developed and validated a FISH assay to identify low level mosaicism for an XY or XX cell population, or an X or Y structural rearrangement. We have tested 44 patients with monosomy X for sex chromosomal mosaicism using FISH. A second cell line was identified in 10 patients (23%), 6 with X/XX, 1 X/i(X), and 3 X/dic(X). None of the patients studied thus far with FISH have exhibited a Y-chromosome cell population. FISH as an adjunct to karyotype analysis is useful to identify sex chromosome mosaicism in UTS patients, and has increased the rate of identification of mosaicism from 55% to 67%.

KW - Sex chromosome mosaicism

KW - Turner syndrome

UR - http://www.scopus.com/inward/record.url?scp=33748886883&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748886883&partnerID=8YFLogxK

U2 - 10.1016/j.ics.2006.06.002

DO - 10.1016/j.ics.2006.06.002

M3 - Article

VL - 1298

SP - 9

EP - 12

JO - International Congress Series

JF - International Congress Series

SN - 0531-5131

ER -