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4q13.3 Deletion

Nlacroix Message
24 May 2016, 09:16 PM

Hello. Just discovered this group and wanted to share our experience and maybe connect with other parents of C4qDS kids. We have a 5 year old with a deletion on 4q13.3 and has lost 2 genes known to be associated with causing genetic diseases, however he has not shown any signs that he is affected by it. He is a very happy and healthy child with no visible 'problems' other than his small stature. He weighs less than 35lbs and is quite small. A recent bone-age test measured him as 3 years. He has been diagnosed with Global Developmental Delay. This past year was his first year in school (Kindergarten), which he took to surprisingly well. He had had trouble integrating with pre-school. Although he has some trouble learning and is behind the other children, he has been progressing steadily. Interestingly, there are some areas where he shows exceptional skills. His fine-motor skills are very acute and he is developing exceptional artistic abilities. His deletion may also contribute to some other quirks. When concentrating, or enjoying an activity he will make a (sometimes very loud) droning noise, almost like a humm, or Eeee sound. He also has a speech impediment that can make it difficult to understand him sometimes, although this is improving. And when he was younger he had some teeth problems and had to have caps put on a couple of his teeth. Breast feeding was likely a contributor to his teeth problems though. Also, he is having difficulty with toilet training and still wears a diaper or pullup throughout the day. He's generally healthy, other than the occasional cold or flu, which he seems slightly more prone to. In most ways he is just like any other kid, just developing much slower. Compared to his older brother, it is taking him about twice as long to hit milestones. Once he does hit a milestone though, he usually grasps it quite quickly. My wife and I have both had genetic testing to see if there is a connection, but both of us were 'normal'. We are pretty lucky to have such a great kid, who is so bright, loving and imaginative. With so little information on C4qDS it's hard to know what to expect for his future. So far so good, for our little guy, but I would love to hear from parents who have similar experiences. To my knowledge there have not been any other documented cases of his specific deletion (4q13.3) so it would be interesting to find someone else to see if there are any similarities between them.
LakeLili Message
26 May 2016, 12:12 AM

Hi! Welcome to the board! I am the parent of an 11-yr old boy with a break at 4q34.3-35.2. Tom wasn't diagnosed until he was 7-1/2yrs old as his symptomology is quite mild. Tom's primary issues relate to global hypotonia which impact his bowels most severely. He also has paralytic ileus and mega colon. Its terrific that you have got your son into a mainstream school. We chose to homeschool Tom after it became apparent that the schools were unwilling to deal with his bowel issues. I have just recently joined the 4q Facebook page and found that really useful as well. Best wishes for a great summer.
Mom2twins11 Message
7 Feb 2020, 08:07 PM

So this is an old thread but my son is 8 and has the 4q13.3 deletion. He too is short statured, and was "tiny" up until age 7 when he went from no appetite to an endless one. He has a mild-moderate intelicteul disability and likely autism, though he doesn't technically meet that criteria solely due to his incredibly social nature (albeit not age appropriately social). He struggles with learning, has hypotonia, microecephaly, and assymetry in arms and facial. He suffers from some hearing loss, due to his overtly small ear canals being too small to drain properly. He has had an eye surgery for exotropia (sort of like a lazy eye only the eye drifts outward rather than inward), surgery was fairly successful but did not completely eliminate that. He has some agrression and behavior issues and is seeing an ABA therapist 5 days a week (talk about life and sanity savers!). He also had a bone age study and was revealed that he is about 1-1.5 years behind his chronological age. Overall he is a wonderful, loving child, filled with lots and lots of "qwirks". You are only the 2nd other person I've ever been able to find with this exact same deletion.