fragileX

[susieq8]

I have had a cytogenics analysis which indicated that there is afragile spot on the X chromosome (q27-q28) in 6 of 61 metaphases.  What is the liklihood that I am a carrier of this syndrome?  How accurate is this testing that I had done?Thank-you, Susan Gill.

[eureka254]

Cytogenetic analysis may detect missing or expanded segments of chromosomes, but cyto alone may not be sufficient to determine whether you are "a carrier" of fragile x.  

Every woman with normal chromosomes has 2 fragile x genes; the concern is whether they are "expanded" or not.  DNA mutation analysis for the common fragile x mutation is fairly available, and the test looks at the "number of repeats" on each allele, or any expansion of the fragile x gene on that part of the chromosomes to determine if you might be "a carrier."  Good luck.