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Friday, November 28, 2014
Inherited Disorders and Birth Defects
Translocation of chromosomes 7-14
Hi My son is 4 and I have many problems rise up as he got older such as, Didnt sit up til 10 months and only started walking at 19 months and the crunch was no talking.
He had a hypospadius repair when he was 13months and had some tests as he also never seem to want to eat at all. The test results were that he has translocation of chromosomes 7 and 14! There is no information at all on the particular chromosome and what effects the may cause to my son. He has only just started to talk a couple of words and they are very hard to understand,he also still has every second day where he eats. he has most of the symtoms of Autism as he shacks his hands all day to watch things and also spins anything he can grab, the reasoning with my son with the basic things are very hard most days as I dont think things are clear to him as it would be to an adverage 4 year old. Basically he is a handful in public as the adverage child has the tantrum this is a tantrum with a massive twist as he gets so upset it takes three people to hold him to get to the car and it takes a good hour for him to calm down. He is now going to a fantastic special learning Kindergarden and is doing excellent,but nobody knows what chromosomes 7and 14 do and how these translocating will effect my sons life and development. Please can you help with information on these chromosomes
A translocation occurs when two pieces of chromosomes break off and switch places with each other. If all the chromosomal material is present, just rearranged – that is, switched places (translocated) - this is called a balanced translocation. This person should have no health problems since all the chromosomal material needed is present and functioning properly. There is no way to tell whether or not a person has one of these rearrangements unless you look at his or her blood to examine the chromosomes.
An unbalanced translocation is when some of the chromosomal material that was switched is lost or duplicated when the chromosomes broke and the switch took place – then there is extra and / or missing information that can lead to birth defects and cognitive problems such as mental retardation and autism. This sounds like what may have happened in your son.
The specific types of problems or birth defects would depend on what genetic material was lost or duplicated in the chromosomes that are translocated and what specific genes are located at these sites. There are almost 1,500 genes on chromosome 7 and over 1,200 genes on chromosome 14 that code for hundreds of different proteins and have hundreds of different functions. If your son has an unbalanced translocation involving chromosome 7 and 14 - then there are many genes involved.
You need to know exactly what parts of chromosome 7 and 14 are involved in order to make some predictions as to what types of problems a child may have. In some unbalanced rearrangements (translocations) it is not possible to predict what abnormalities to expect or how severe they may be.
If your son has not already seen a geneticist or genetic counselor, I would highly recommend that you have your doctor make a referral or you can locate a genetics center near you by using the National Society of Genetic Counselors’ Resource website listed below. The geneticist would be able to provide you with information specifically for your son based on his specific problems with chromosome 7 and 14.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University