Spinal Muscular atrophy Risk Factor: Difference between revisions
New page: {{Spinal Muscular Atrophy}} {{CMG}} __NOTOC__ {{Editor Help}} *~98% of parents of an affected child are carriers. Whereas, the rest of 2% that are not carriers have denovo mutati... |
No edit summary |
||
| Line 12: | Line 12: | ||
*The pattern of inheritance is autosomal recessive in SMA. The risk of occurrence/recurrence if both the parents are carriers is 25%, while the risk of having an unaffected carrier child is 50%. | *The pattern of inheritance is autosomal recessive in SMA. The risk of occurrence/recurrence if both the parents are carriers is 25%, while the risk of having an unaffected carrier child is 50%. | ||
This means that in every pregnancy there is | This means that in '''every pregnancy''' there is | ||
* 1 chance in 4 (25% chance) that they will have a child who inherits both copies of the mutated gene. So, there will be no working gene product in the child and he/she will be affected by the condition. | ** 1 chance in 4 ('''25% chance''') that they will have a child who inherits both copies of the mutated gene. So, there will be no working gene product in the child and he/she will be '''affected''' by the condition. | ||
* 1 chance in 4 (25% chance) that their child will inherit both copies of the working gene and will be unaffected by the condition | ** 1 chance in 4 ('''25% chance''') that their child will inherit both copies of the working gene and will be '''unaffected''' by the condition | ||
* 1 chance in 2 (i.e. 2 chances in 4; 50% chance) that their child will inherit the mutated gene and the working copy of the gene from each parent and he/she will be an unaffected carrier of the faulty gene, just like the parents i.e. carrier for the condition | ** 1 chance in 2 (i.e. 2 chances in 4; '''50% chance''') that their child will inherit the mutated gene and the working copy of the gene from each parent and he/she will be an '''unaffected carrier''' of the faulty gene, just like the parents i.e. carrier for the condition | ||
Revision as of 12:40, 25 June 2011
|
Spinal Muscular Atrophy Microchapters |
|
Spinal Muscular atrophy Risk Factor Resources |
|---|
|
Ongoing Trials on Spinal Muscular atrophy Risk Factor at Clinical Trials.gov |
|
US National Guidelines Clearinghouse on Spinal Muscular atrophy Risk Factor |
|
Directions to Hospitals Treating Spinal Muscular atrophy Risk Factor |
|
Risk calculators and risk factors for Spinal Muscular atrophy Risk Factor |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.
- ~98% of parents of an affected child are carriers. Whereas, the rest of 2% that are not carriers have denovo mutation.
- The pattern of inheritance is autosomal recessive in SMA. The risk of occurrence/recurrence if both the parents are carriers is 25%, while the risk of having an unaffected carrier child is 50%.
This means that in every pregnancy there is
- 1 chance in 4 (25% chance) that they will have a child who inherits both copies of the mutated gene. So, there will be no working gene product in the child and he/she will be affected by the condition.
- 1 chance in 4 (25% chance) that their child will inherit both copies of the working gene and will be unaffected by the condition
- 1 chance in 2 (i.e. 2 chances in 4; 50% chance) that their child will inherit the mutated gene and the working copy of the gene from each parent and he/she will be an unaffected carrier of the faulty gene, just like the parents i.e. carrier for the condition