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Anyone normal karyotype but sex chroms are abnormal?

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  1. #1
    bebeblues
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    Anyone normal karyotype but sex chroms are abnormal?

    I know this is a long shot, but.......I am curious as to whether anyone who has been karyotyped in this forum has come back normal 46 XX or 46XY, but been told that they must have a genetic issue with their eggs or sperm b/c of poor quality or low sperm parameters?
    I know there's no way to actually genetically test eggs and sperm at this point, except for like y chromosome microdeletions and a few other specific mutations for sperm. I know there's PGD on embryos, but I am so blown away b/c I was told that my embyologist thinks I have a genetic problem w/ my eggs at 32 yo, 46XX-normal karyotype, low FSH, etc.

    He also thinks my DH has an extermely rare (only 1 other documented case in the world) genetic issue with his sperm. What are the odds?

    Any ideas?

    Thanks in Advance,
    Bebe


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  3. #2
    barbiesthoughts
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    To the best of my knowledge - and I am certainly no expert - karyotyping only examines the chromosomes. So it will pick up chormosomal anomolies but not problems carried in the genes (as I am sure you are well aware, their are hundreds (thousands?) of genes on each chromosome).

    Chromosome anomolies can be things like trisomy (3 of a chromosome) monosomy (only one of a chromosome), translocations (bits of chromosomes moved around).

    Sorry this isn't much help.


  4. #3
    bebeblues
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    Thanks Barbie-yes, you're right. I'm just trying to find some clinic or Dr. that would be willing to at least look for mutations along DH's X and Y chromosomes. I don't even think anywhere exists.
    I'm not going through another ER just to have the genetics of my eggs checked, but DH's sample is "easy" IYKWIM.

    Thanks again,
    Bebe


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