Deletions and duplications

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fourkidsmom

New member
So I assume you are talking about chromosome deletions? When my youngest daughter without cf was tested by amnio it showed she did not have CF. They apparently never tested for deletions, duplications because her 9 q deletion was never found out until we did a chromosome test 2 yrs after her birth that confirmed that diagnosis.

Interesting.....
 
F

fourkidsmom

New member
So I assume you are talking about chromosome deletions? When my youngest daughter without cf was tested by amnio it showed she did not have CF. They apparently never tested for deletions, duplications because her 9 q deletion was never found out until we did a chromosome test 2 yrs after her birth that confirmed that diagnosis.

Interesting.....
 
F

fourkidsmom

New member
So I assume you are talking about chromosome deletions? When my youngest daughter without cf was tested by amnio it showed she did not have CF. They apparently never tested for deletions, duplications because her 9 q deletion was never found out until we did a chromosome test 2 yrs after her birth that confirmed that diagnosis.

Interesting.....
 
F

fourkidsmom

New member
So I assume you are talking about chromosome deletions? When my youngest daughter without cf was tested by amnio it showed she did not have CF. They apparently never tested for deletions, duplications because her 9 q deletion was never found out until we did a chromosome test 2 yrs after her birth that confirmed that diagnosis.

Interesting.....
 
F

fourkidsmom

New member
So I assume you are talking about chromosome deletions? When my youngest daughter without cf was tested by amnio it showed she did not have CF. They apparently never tested for deletions, duplications because her 9 q deletion was never found out until we did a chromosome test 2 yrs after her birth that confirmed that diagnosis.
<br />
<br />Interesting.....
<br />
<br />
 
V

valigirl21

Guest
I'm just trying to understand the science of it all. Genetically speaking my son doesn't have CF, but his medical hx is almost classic CF (minus meconium illeus). I don't understand how he could have CF , but not have CF. I'm just very frustrated with the whole process of dx right now. Even the specialists can't agree whether or not he has CF. It's making me batty! Thanks for everyone's input and I will definately address it to Steve at Ambry.
 
V

valigirl21

Guest
I'm just trying to understand the science of it all. Genetically speaking my son doesn't have CF, but his medical hx is almost classic CF (minus meconium illeus). I don't understand how he could have CF , but not have CF. I'm just very frustrated with the whole process of dx right now. Even the specialists can't agree whether or not he has CF. It's making me batty! Thanks for everyone's input and I will definately address it to Steve at Ambry.
 
V

valigirl21

Guest
I'm just trying to understand the science of it all. Genetically speaking my son doesn't have CF, but his medical hx is almost classic CF (minus meconium illeus). I don't understand how he could have CF , but not have CF. I'm just very frustrated with the whole process of dx right now. Even the specialists can't agree whether or not he has CF. It's making me batty! Thanks for everyone's input and I will definately address it to Steve at Ambry.
 
V

valigirl21

Guest
I'm just trying to understand the science of it all. Genetically speaking my son doesn't have CF, but his medical hx is almost classic CF (minus meconium illeus). I don't understand how he could have CF , but not have CF. I'm just very frustrated with the whole process of dx right now. Even the specialists can't agree whether or not he has CF. It's making me batty! Thanks for everyone's input and I will definately address it to Steve at Ambry.
 
V

valigirl21

Guest
I'm just trying to understand the science of it all. Genetically speaking my son doesn't have CF, but his medical hx is almost classic CF (minus meconium illeus). I don't understand how he could have CF , but not have CF. I'm just very frustrated with the whole process of dx right now. Even the specialists can't agree whether or not he has CF. It's making me batty! Thanks for everyone's input and I will definately address it to Steve at Ambry.
 
M

Mommafirst

Guest
Valerie,

Have they tested him for Schwachmann Diamond Syndrome (SDS) it is a much less known disease that seems to mirror a LOT of CF symptoms. It usually includes pancreatic insufficiency helped by enzymes and has some respiratory components as well, it could also be linked to the autism and adhd. You might want to check out the SDS website -- <a target=_blank class=ftalternatingbarlinklarge href="http://www.shwachman-diamond.org/">http://www.shwachman-diamond.org/</a> for more information.
 
M

Mommafirst

Guest
Valerie,

Have they tested him for Schwachmann Diamond Syndrome (SDS) it is a much less known disease that seems to mirror a LOT of CF symptoms. It usually includes pancreatic insufficiency helped by enzymes and has some respiratory components as well, it could also be linked to the autism and adhd. You might want to check out the SDS website -- <a target=_blank class=ftalternatingbarlinklarge href="http://www.shwachman-diamond.org/">http://www.shwachman-diamond.org/</a> for more information.
 
M

Mommafirst

Guest
Valerie,

Have they tested him for Schwachmann Diamond Syndrome (SDS) it is a much less known disease that seems to mirror a LOT of CF symptoms. It usually includes pancreatic insufficiency helped by enzymes and has some respiratory components as well, it could also be linked to the autism and adhd. You might want to check out the SDS website -- <a target=_blank class=ftalternatingbarlinklarge href="http://www.shwachman-diamond.org/">http://www.shwachman-diamond.org/</a> for more information.
 
M

Mommafirst

Guest
Valerie,

Have they tested him for Schwachmann Diamond Syndrome (SDS) it is a much less known disease that seems to mirror a LOT of CF symptoms. It usually includes pancreatic insufficiency helped by enzymes and has some respiratory components as well, it could also be linked to the autism and adhd. You might want to check out the SDS website -- <a target=_blank class=ftalternatingbarlinklarge href="http://www.shwachman-diamond.org/">http://www.shwachman-diamond.org/</a> for more information.
 
M

Mommafirst

Guest
Valerie,
<br />
<br />Have they tested him for Schwachmann Diamond Syndrome (SDS) it is a much less known disease that seems to mirror a LOT of CF symptoms. It usually includes pancreatic insufficiency helped by enzymes and has some respiratory components as well, it could also be linked to the autism and adhd. You might want to check out the SDS website -- <a target=_blank class=ftalternatingbarlinklarge href="http://www.shwachman-diamond.org/">http://www.shwachman-diamond.org/</a> for more information.
 
V

valigirl21

Guest
I think his GI doc may have mentioned it. Thanks for the link, Heather.
 
V

valigirl21

Guest
I think his GI doc may have mentioned it. Thanks for the link, Heather.
 
V

valigirl21

Guest
I think his GI doc may have mentioned it. Thanks for the link, Heather.
 
V

valigirl21

Guest
I think his GI doc may have mentioned it. Thanks for the link, Heather.
 
V

valigirl21

Guest
I think his GI doc may have mentioned it. Thanks for the link, Heather.
 
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