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Missing X Chromosome
> name John
> status other
> age 40s
> Question - We are adopting a 2 year old child, but have heard of
> him having a "missing X chromosome". Is there such a thing? and if so,
> How will it affect the child either now or later in life? The rumor that
> went with this is that later in life it will cause severe behavior
> problems.He seems normal now except for maybe some dwarf
> characteristics,but it's hard to tell because of his age. Thank You
>v
>
>As far as I know it is impossible to be missing the X chromosome. There are
>many genes on the X that are necessary for life. He could have an extra X or
>an extra Y. I think you misunderstood, or someone else did.
Van Hoeck
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>If he were missing the entire X chromosome he wouldn't have survived to two
>years old. He may be missing a part of it, in which case, the particular
>problems he'll have will depend on which part is missing. Or he might have
>a rearrangement involving the X and another chromosome, which may or may not
>involve the loss of any information.
>
>Did you learn about this condition from the adoption agency? or from his
>pediatrician? To know specifically what chromosomal anomaly you're dealing
>with, you'd need to have a test called a karyotype -- to look at the
>chromosomes and see what's there and what's not. If that's already been
>done, there should be a medical report somewhere. I would visit a genetic
>counselor, who could interpret a test if you have the report, or repeat it
>if there's no record available. It's just a blood test to get the cells to
>look at.
>
>There are also support groups for people wanting to learn more about genetic
>conditions. The Genetic Alliance website is a searchable resource to find
>specific conditions by name of a disease or by chromosomal location. It's
>at http://www.geneticalliance.org/.
>They also have a link specifically for chromosomal deletions at
>http://209.67.209.39/data/ORG1424.html.
>
>Good luck!
>
>
>Christine Ticknor
>Ph.D. Candidate
>Yale University
>New Haven, Connecticut
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