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What Does Partial Chromosomal Deletion Of Long Arm Of Chromosome Mean?
Question: my daughter has been diagnosed as having partial chromosomal deletion of long arm of chromosome 19 - 19q.13.12. also global developmental delay - what does this mean
Brief Answer:
This is a genetic problem might be inherited rarely
Detailed Answer:
Some chromosomal conditions are caused by changes in the number of chromosomes. These changes are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in reproductive cells with an abnormal number of chromosomes. For example, a reproductive cell may accidentally gain or lose one copy of a chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra or missing chromosome in each of the body’s cells.
In your daughter, a part of a chromosome from one parent was deleted before they joined together.
These partial deletions can cause develpmental delay, cardiac defects, etc.
heart problems can be corrected but the other features are not reversible, nor any treatment is available.
This is usually sporadic, but sometimes can be repeated in next pregnancies.
Only way to say if your next baby will be affected or not is by doing amniocentesis and getting DNA tested.
Dr Arun
This is a genetic problem might be inherited rarely
Detailed Answer:
Some chromosomal conditions are caused by changes in the number of chromosomes. These changes are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in reproductive cells with an abnormal number of chromosomes. For example, a reproductive cell may accidentally gain or lose one copy of a chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra or missing chromosome in each of the body’s cells.
In your daughter, a part of a chromosome from one parent was deleted before they joined together.
These partial deletions can cause develpmental delay, cardiac defects, etc.
heart problems can be corrected but the other features are not reversible, nor any treatment is available.
This is usually sporadic, but sometimes can be repeated in next pregnancies.
Only way to say if your next baby will be affected or not is by doing amniocentesis and getting DNA tested.
Dr Arun
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Yogesh D
Answered by
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