abnormalities in chromosomes

Natalie - posted on 06/06/2013 ( 5 moms have responded )

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My 3 year old son recently had blood test as he isn't the same height as other children his age and now i have to go for blood test to see if its hereditary. Has anyone heard of chromosome abnormality?

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Coleen - posted on 06/10/2013

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My 6 yo son with high-functioning autism recently had a full chormosomal panel done, based on concern that he may have the MTFHR mutation. He did not have that mutation, but does have chormosomal anamoly. Chromosome 12 has a partial deletion that inserted itself into Chromosome 19. The clinical research points to this deletion causing his autism, behavioral difficulties and developmental delays. He has or did have all of these and have been addressed. It turns our it was just fluke in the baby-making process. I "knew" my son had autism and developmental delays from the time he was born. However, they weren't confirmed until age 4 and age 2, respectively. I hope this reminds you that not all genetic anomalies are something you son will have for life. BTW, my son also had to other anomalies with his genes, but neither of those were of any clinical significance. Oh, and DH and I were both tested and neither of us had the deletion/insertion of #12.

Cara - posted on 06/10/2013

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I would seriously consider being tested for celiac. Until they rule it out by blood work don't consider it checked off the list of causes for short stature.

Susan (Jimmie's Aunt Susie) - posted on 06/07/2013

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There are a lot of hereditary chromosome abnormalities and genetic disorders. I have Ehlers Danlos Syndrome which is a genetic connective tissue disorder. It causes the body to make bad collagen which is the "glue" that holds our bodies together. They haven't found the gene that causes EDS yet but I know my Dad had it. He passed without ever knowing about it but I can see the signs in hindsight. I'm not familiar with chromosomal abnormalities that can cause height issues but I know there are some. I know it's worrisome but no matter what happens, he is your baby and everything will be ok. If they do find something hereditary, then it will be your choice if you have more children or not. My kids may have EDS but I had no idea I had it to pass on so I feel no guilt over it. I've know people with kids who had Down's Syndrome, Fragile X syndrome and more. Those are chromosomal abnormalities also. I hope this is at least a little helpful.

Julia - posted on 06/07/2013

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How tall are you and his father? I don't know your son's situation but I hope my story will be encouraging. I'm very short but still normal height (5'1) and my ex is only 5'6 and naturally very thin. All 3 of our kids were below the growth charts and even below the height vs. weight chart, especially my eldest son. They sent me to nutritionists and did many tests, they even tested him for cystic fibrosis and recommended hormone therapy for suspected hypopituitarism, but I was worried about the long-term effects of administering growth hormone. The doctors terrified me, as I was only 21 when he was born. He was growing slowly but developing normally, he was even ahead of the curve developmentally, and he ate well. Finally I decided enough was enough. I reasoned that his father and I were both below the growth chart, so why should he be different than us? We didn't have the hormone therapy or any other intervention. I fed him well and told him he was strong and healthy. I encouraged him to exercise. Starting high school he was about the size of an average, skinny 10-year-old, but at about 16 he had a growth spurt and he is now, still skinny but strong and active, 5'10 at age 21. I hope your son has as good a resolution to this as mine did. Small stature can be a symptom of health problems, but all children grow differently and comparing them to each other is not always a good indicator.

Cathy - posted on 06/06/2013

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my duaghter is very very small for her age and her hands and feet and head are also small. yes for her it was her dna. she has 2q23.1 but is diagnosed with autism right now

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