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Name: Ewa D.
Status: Other
Age: 40s
Location: N/A
Country: N/A
Date: December 2002


Question:
A parent of a child client has been told that his daughter (presently 13) is missing the tips of chromosome 9. I am a social worker. Please explain 1) the function of that chromosome as well as 2) the implications of these tips missing. Specifically, what are the symptoms of this as well as would the effects be seen behaviorally, intellectually and/or socially?



Replies:
A family with questions about a chromosome abnormality should be referred for genetic counseling.

There they will have confirmation (or otherwise) of the missing piece of genetic material and its precise location and extent. If the father is correct about his daughter's chromosomes, it suggests that chromosome studies have already been done. These should always be accompanied by genetic counseling to communicate the results, and their implications for the child, in a way the family can understand.

A genetic counselor will help answer the questions you are asking about the symptoms, the function of the chromosome involved, and the behavioral, intellectual and social effects.

If the parents have already met with a genetic counselor but still feel uncertain, they would be welcome to return for a follow-up visit to review the information and learn about new research discoveries.

As a social worker you would be welcome at the genetic counseling appointment if the family want you there - then you could hear it all yourself and be well equipped to help them deal with it in the future. Or you could arrange to receive a copy of the genetic counselor's dictation letter describing the appointment and summarizing the information discussed.

To find a genetic counselor located near you, contact the NSGC (National Society of Genetic Counselors) at 610-872-7608 or go to their website at www.nsgc.org and click on Resource Links.

Wishing you and your clients well,

Sarina M. Kopinsky, MSc, CGC (board certified genetic counselor)



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