Genetic Disorders Expert Forum
Additional Genetic Material
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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Additional Genetic Material

I have two sons with multiple issues.  My youngest, age 6, is diagnosed with autism but was investigated for metabolic or genetic conditions due to his dramatic regression at just over one year of age as well as some soft signs of a genetic disorder such as his large, almond shaped eyes and larger head circumference.  The only finding was a carnitine and selenium deficiency which resolved with supplements.  My oldest son, now 9, developed normally and hit all of his developmental milestones.  Unfortunately, since the age of 5, he has been diagnosed with developmental delay, hypotonia, abnormal gait, tic disorder, scoliosis and a significant learning disability despite a normal IQ.  He has more than 6 cafe au lait spots as well as some other soft signs such as a larger head circumference, almond shaped eyes and tapered fingers.  My older son's recent microarray showed extra genetic material on one of his chromosomes that according to the doc they "have never seen before."  Now my husband, myself and my youngest will be undergoing testing to find out if we also have this defect.  It seems to me that with two children with issues that it isn't a benign finding, but I have no idea what to make of it or where to go with this information.  Any suggestions?
Thanks!
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It sounds like you have a lot going on in your family.  I hope that this information helps.  I am assuming from your question that the test that your oldest son had was microarray-based comparative genomic hybridization (aCGH).  As you know, this is a molecular test that is used to detect loss or gain of genetic material.  Recent research has suggested that this test can be helpful for families who are looking for a diagnosis for unexplained autism or developmental delay.

Often, when a test result has been found that has not been seen before, geneticists recommend that other family members have testing to try and sort out if the extra genetic material is related to the symptoms in the family.  For example, if your youngest son has the same finding, and you and your husband have different findings, this may help your son’s doctor clarify what the test results mean.  

If you haven’t already, it may be helpful to meet with a pediatric geneticist who may also be able to help in finding a diagnosis for your family.  You can find a medical geneticist through the American College of Medical Genetics.  I wish you and your family the best.
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