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Raising Special Needs Kids Raising Special Needs Kids

Chromosomal Disorders/Abnormalities

Posted by on Nov. 15, 2012 at 8:41 PM
  • 27 Replies

Still new here and just wondering who on here has children with chromosomal abnormalities.

My step-son has a partial deletion of chromosome 17.

My oldest son has ADHD.

Just curious and wanting to get to know the group.

Kristine

by on Nov. 15, 2012 at 8:41 PM
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Replies (1-10):
mandee1503
by Amanda on Nov. 15, 2012 at 8:53 PM

Welcome! Here is a bump!

jjamom
by Michele on Nov. 15, 2012 at 9:00 PM
1 mom liked this

Welcome to the group.  My son has Down syndrome (or Trisomy 21), which is an additional 21st chromosome.  He has three, where most of us have two.  We call it chromosomally enhanced!

mikenestmom
by on Nov. 15, 2012 at 9:40 PM
1 mom liked this

Welcome! My son has Designer genes (down syndrome) or Trisomy 21.

Elyssa414
by Elyssa on Nov. 16, 2012 at 12:15 AM
Not me, but here's a bump! :)
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busymom3910
by on Nov. 16, 2012 at 12:52 AM

My 3 year old daughter Bayleigh has a small deletion on chromosome 12 and has a mutation on the UBE3A portion of chromosome 15 (Angelman Syndrome)

Kris0806
by on Nov. 16, 2012 at 1:00 AM
1 mom liked this

Thanks for the replies. It's nice to get an idea of who is who :-)

The deletion my step-son has is very rare and there isn't really a name for it other than a partial deletion. I am really hopeful that I can get to know some of you. It's always nice to know that you have somewhere to turn when you need some advice.  I will sure try to do the same for you ladies :-)

passionatebren
by on Nov. 16, 2012 at 8:37 AM
1 mom liked this

Hi Kris my stepdaughter s a rare chromosome disorder called Super numerary ring chromosome it affects her #5 chromosome she has a extra #5. The last we knew there was only 7 in the world. No one knows anything about it each person that is documaneted to have it all have different issues but some in common. We have recently found out that she 2 microduplications on her long and short arms of the chromsome and that she is only using one of her X chromsomes. She also has atrophy of the central vortex of her brain. The latter two are significant to her behavior. I would reccomend you become a member of Unique and Chromosome Deletion Outreach both are support groups for all types of syndroms and chromsome disorders. They can hook you up with others if they are in their data bases who have a child with the same or similar issues. They also always the latest research and studies available. 

FoxxyMama1
by on Nov. 16, 2012 at 8:42 AM

My son has a deletion at 16p11.2.  Welcome!

michele115
by Michele on Nov. 16, 2012 at 5:36 PM

My son has down syndrome so he has an extra. One of the girls I work with has a grand daughter with a missing chromosone so it's our little joke that my son can give her his extra. LOL

mariyahsmommy
by New Member on Nov. 16, 2012 at 6:38 PM
My daughter mariyah is 9yrs old, and has 18 ring chromosome abnormality .
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