Unique Chromosome Abnormalities

For mothers of children diagnosed with a chromosome abnormality unique to them. Our daughter has partail trisomy 18 with an 8 p deletion.She is the only documentated case in the world. I I would like to connect with other moms who have a child w/ a similar abnormality(esp concerning #18) but invite all mother with a child who has any "unique" rearrangemnt, addition, or deletion.

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14q chromosome deletion

My baby was just born Jan 2 2014 with a 14q chromosome deletion . I'm lost he has s ok many medical problems I fear the quality of his life over quantity. He has a trach and a...

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Deletion 22, Duplication 1 & 10

We just found out that my son has a deletion on 22 and a duplication on 1 and 10. His first bloodwork actually said he had a duplication on 22 and the more "specific" bloodwork...

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3q29 duplication

Hello moms! I have a daughter with a 3q29 duplication. I'd like to know if there are more cases....It's a extremelly rare syndrome, I have no asociation here, and don't know...

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Chromosome Abnormalities

I thought I would post with my sons chromosome deletion. He has 3q29 deletion. Chromosome changes are very difficult to pinpoint especially when the documentation is not...

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chromosome 14q 11.2-22 deletion

My daughter is 14. She has a chromosome 14q 11.2-22 deletion. We obviously know of her challenges, but we are looking for specific info on her condition. We were told it was so...

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chrom 2 & 14

Hi i have 2 kids both with partial trisomy 2 & partial monosomy 14. I myself was found to be an balanced translocator & they obviously were unbalanced. I haven't had much luck...

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Chromosome Deletion 7q22.1

Like many of you, our daughter has a unique chromosome deletion. Finley was diagnosed with Tetralogy of Fallot at birth. She underwent open heart surgery at 10 weeks. When...