TY - JOUR
T1 - FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients
AU - Wiktor, Anne
AU - Van Dyke, Daniel L.
PY - 2004/5
Y1 - 2004/5
N2 - Purpose: To search for X or Y chromosome mosaicism in 45,X individuals using fluorescent in situ hybridization (FISH). Methods: From our series of 53 Ullrich-Turner syndrome patients, we used interphase FISH to evaluate the 19 who had an apparently nonmosaic 45,X karyotype with G-banding. Results: Of those 19 patients, mosaicism was detected in seven (37%), five patients had an XX line, one had a monocentric isochromosome X, and one had a dicentric isochromosome X. No Y chromosome mosaic was identified. Conclusion: FISH analysis is a sensitive and cost-effective adjunct to karyotype analysis to identify sex chromosome mosaicism in UTS.
AB - Purpose: To search for X or Y chromosome mosaicism in 45,X individuals using fluorescent in situ hybridization (FISH). Methods: From our series of 53 Ullrich-Turner syndrome patients, we used interphase FISH to evaluate the 19 who had an apparently nonmosaic 45,X karyotype with G-banding. Results: Of those 19 patients, mosaicism was detected in seven (37%), five patients had an XX line, one had a monocentric isochromosome X, and one had a dicentric isochromosome X. No Y chromosome mosaic was identified. Conclusion: FISH analysis is a sensitive and cost-effective adjunct to karyotype analysis to identify sex chromosome mosaicism in UTS.
KW - Chromosomal mosaicism
KW - Gonadoblastoma
KW - Turner syndrome
KW - X chromosome monosomy
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U2 - 10.1097/01.GIM.0000127270.49902.56
DO - 10.1097/01.GIM.0000127270.49902.56
M3 - Article
C2 - 15354330
AN - SCOPUS:2642558850
SN - 1098-3600
VL - 6
SP - 132
EP - 135
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 3
ER -