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A rare variant in my husband's results.

L

littlemisskris16

New member
Hello

I posted in 2007 with results that my husband came back as an A-typical carry of CF. We were married in 2008, and waited a year to start trying for a baby.

I have Double DeltaF508 and my husband carries a 'rare variant (L967S)'. We were told when coupled with DDF508, it can cause A typical CF.

We met again with the genetic counsler and was told there was only one other case where the patient carried an F508 and a L967S, causing A typical CF.

We are not happy with the answers we have been given. We would like to know what are the percentages that our child would or could have CF. We are aware that our child would be a def carrier, bc of my mutation.

Thanks in Advance for your help.

Kristy
 
L

littlemisskris16

New member
Hello

I posted in 2007 with results that my husband came back as an A-typical carry of CF. We were married in 2008, and waited a year to start trying for a baby.

I have Double DeltaF508 and my husband carries a 'rare variant (L967S)'. We were told when coupled with DDF508, it can cause A typical CF.

We met again with the genetic counsler and was told there was only one other case where the patient carried an F508 and a L967S, causing A typical CF.

We are not happy with the answers we have been given. We would like to know what are the percentages that our child would or could have CF. We are aware that our child would be a def carrier, bc of my mutation.

Thanks in Advance for your help.

Kristy
 
L

littlemisskris16

New member
Hello

I posted in 2007 with results that my husband came back as an A-typical carry of CF. We were married in 2008, and waited a year to start trying for a baby.

I have Double DeltaF508 and my husband carries a 'rare variant (L967S)'. We were told when coupled with DDF508, it can cause A typical CF.

We met again with the genetic counsler and was told there was only one other case where the patient carried an F508 and a L967S, causing A typical CF.

We are not happy with the answers we have been given. We would like to know what are the percentages that our child would or could have CF. We are aware that our child would be a def carrier, bc of my mutation.

Thanks in Advance for your help.

Kristy
 
L

littlemisskris16

New member
Hello

I posted in 2007 with results that my husband came back as an A-typical carry of CF. We were married in 2008, and waited a year to start trying for a baby.

I have Double DeltaF508 and my husband carries a 'rare variant (L967S)'. We were told when coupled with DDF508, it can cause A typical CF.

We met again with the genetic counsler and was told there was only one other case where the patient carried an F508 and a L967S, causing A typical CF.

We are not happy with the answers we have been given. We would like to know what are the percentages that our child would or could have CF. We are aware that our child would be a def carrier, bc of my mutation.

Thanks in Advance for your help.

Kristy
 
L

littlemisskris16

New member
Hello
<br />
<br />I posted in 2007 with results that my husband came back as an A-typical carry of CF. We were married in 2008, and waited a year to start trying for a baby.
<br />
<br />I have Double DeltaF508 and my husband carries a 'rare variant (L967S)'. We were told when coupled with DDF508, it can cause A typical CF.
<br />
<br />We met again with the genetic counsler and was told there was only one other case where the patient carried an F508 and a L967S, causing A typical CF.
<br />
<br />We are not happy with the answers we have been given. We would like to know what are the percentages that our child would or could have CF. We are aware that our child would be a def carrier, bc of my mutation.
<br />
<br />Thanks in Advance for your help.
<br />
<br />Kristy
 
H

hmw

New member
Whenever a carrier of any mutation has a child with someone who has CF, there is a 50% chance the child will have CF, and a 50% chance the child will be a carrier.

To inquire further on odds of severity of disease for this combination of mutations, try posting in the 'Ambry' thread (top of this forum.) Steve is very helpful to all who post to him and has a great deal of expertise on this subject. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
Whenever a carrier of any mutation has a child with someone who has CF, there is a 50% chance the child will have CF, and a 50% chance the child will be a carrier.

To inquire further on odds of severity of disease for this combination of mutations, try posting in the 'Ambry' thread (top of this forum.) Steve is very helpful to all who post to him and has a great deal of expertise on this subject. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
Whenever a carrier of any mutation has a child with someone who has CF, there is a 50% chance the child will have CF, and a 50% chance the child will be a carrier.

To inquire further on odds of severity of disease for this combination of mutations, try posting in the 'Ambry' thread (top of this forum.) Steve is very helpful to all who post to him and has a great deal of expertise on this subject. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
Whenever a carrier of any mutation has a child with someone who has CF, there is a 50% chance the child will have CF, and a 50% chance the child will be a carrier.

To inquire further on odds of severity of disease for this combination of mutations, try posting in the 'Ambry' thread (top of this forum.) Steve is very helpful to all who post to him and has a great deal of expertise on this subject. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
Whenever a carrier of any mutation has a child with someone who has CF, there is a 50% chance the child will have CF, and a 50% chance the child will be a carrier.
<br />
<br />To inquire further on odds of severity of disease for this combination of mutations, try posting in the 'Ambry' thread (top of this forum.) Steve is very helpful to all who post to him and has a great deal of expertise on this subject. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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