FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients.
OBJECTIVE
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.


CONCLUSIONS
FISH analysis is a sensitive and cost-effective adjunct to karyotype analysis to identify sex chromosome mosaicism in UTS.
Wiktor
Anne
A
Henry Ford Hospital, 2799 West Grand Boulevard, Detroit, MI 48202, USA.
Van Dyke
Daniel L
DL
D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D005456:Fluorescent Dyes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping / Q000379:methods; D009030:Mosaicism; D011237:Predictive Value of Tests; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics*
D005456:Fluorescent Dyes