duplication of7q21.13 {large 1.68 -1.73mb} and deletion of 6p25.1 {large 208.45 - 240.91kb}

What does this mean? Our boy was just "diagnosed" with this

Duplication on chromosome 7q21.13 large size 1.68 to 1.73 mb

Deletion of 6p25.1 large size 208.45 to 240.91 kb

He is only 26 months old......I have searched and searched for answers to understand the meaning...please help me with this

[Jordanna Joaquina, MS, CGC]

We hope that you and your family are getting the support you need, and we strongly recommend that you meet with a medical geneticist, who review with you your son's chromosome analysis in the context of any current symptoms. A medical geneticist is a doctor who specializes in genetic disorders, such as chromsome abnormalities.

She/he will perform a physical exam on your son, as well as explain the prognosis of having this particular deletion on chromosome 6 and duplication on chromosome 7 based on what we know from medical cases that have been documented of people with the same or very similar chromosome deletion and duplication. A medical geneticist can also help get you and your family the appropriate referrals to the specialists he will need and support resources for your family. You can find a medical geneticist at the American College of Medical Genetics website. We wish you, your son and your family the very best.

[vickilynnpurdy]

Thanks so much for taking the time to read and answer....

We have a geneticist, and a genetics counselor. We recd a phone call saying "We can not find another child in history with the same deletion or duplication, so there is no point in meeting again with you...We don't know what we may be facing!" .......So ...here I am!! I just want to know what the {size numbers mean...are the microscopic deletions, small med or large?} Are these deletions and duplications rare, and if so are they really that rare? How could there NOT BE ANOTHER CHILD WORLD WIDE?  ...Thanks for taking the time!! <3

[Jordanna Joaquina, MS, CGC]

We will do some research and get back to you shortly. It can be extremely difficult to determine prognosis when the condition is this rare, which can be more than frustrating for the family. There are many genetic disorders that are so rare that only a couple of affected people/families exist in the world. In the meantime, you may want to look into Chromosome Disorder Outreach, Inc, a non-profit for families of children with rare chromosome problems. They may have some resources to help you, your family and your son.

[vickilynnpurdy]

I thank you and I am looking forward to hearing from you again!

[Jordanna Joaquina, MS, CGC]

I apologize for the delay, but I was unable to find anything relevant to your son's specific abnormality. We recommend that you continue to follow up with your son's doctors, including his geneticist, as new information is being uncovered on a daily basis. You may also find some possible helpful resources at Chromosome Disorder Outreach or Syndromes without a Name.

[LindaTX]

Hi, Texas Childrens' Hospital, St Judes, and Mayo Clinic all have good websites that may provide provide help for your child. I know you are exhausted, but there has to be someone out there who can advise you on this. I hope all goes well for you and your little one.

[vickilynnpurdy]

Thank you for your comment! This is an amazing situation! He has a chromosomal aberration that NO ONE else in the world has...Talk about  taking things for granted. I had no idea that this was even possible! I have talked to many geneticists now, and there is no genetics counseling available, as there is nothing that they can tell us...No one in medical literature has posessed this, so what is there to say, other than sit back and wait!! He is 28 months old now, and I am just praying and hoping and loving him!!!

Live love laugh....I am finding out just how blessed the rest of us with good genes are!!

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