In Mosiac Down Syndrome, only some of the person’s 21st set of chromosomes are in triplicate and others are completely unaffected. The last of the types of Down Syndrome is Mosiac. When a person has a rearrangement of chromosome material, with no extra or missing chromosome material, he or she is said to have a “balanced translocation” or be a “balanced translocation carrier.(CHOPedu) If one parent has the translocation chromosome, then the doctor knows the baby inherited the translocation from that parent. Whenever a translocation is found in a child, the parents’ chromosomes are studied to determine whether the translocation was inherited or not. According to the Children’s Hospital of Philidelphia:ģ to 4 percent of babies born with Down syndrome have translocation Down syndrome. This type can be hereditary but is the only type that is. It does not always attach itself to the 21 st set but it is a 21 st chromosomal piece. The most interesting part about this specific kind of Down Syndrome is that the extra piece of chromosome 21 can actually attach itself to another chromosomal pair such as the 13 th set or the 15 th set. #Mosaic down syndrome full#So instead of a full third strand of Chromsomal material, there is a piece of chromosomal material attached to one of the other full chromosomes. This can be thought of as though it is kind of like a small hitchhiker that is caused by rearranged chromosome material. Trisomy 21 is not a spectrum disorder it is a genetic difference at the very basic level of our human makeup.Īnother of the types of down syndrome is when extra genetic material is attached to the 21 st chromosome, but it may not be a full and separate chromosomal piece. Some individuals will have more affects with their physical makeup such as heart issues, intestinal tract difficulties, and other motor and cognitive abilities.īecause there are a variety of ways in which a person is able to function and is affected by the extra material people often think that this is a spectrum disorder. Some individuals will function very well with no health issues to speak of and the ability to function cognitively very well. The extra genetic material affects each person differently. This is the case for 95% of babies who will be diagnosed with Down Syndrome. In these types of down syndrome all copies of the 21 st chromosome are in triplicate. Specifically when the 21 st chromosome is the one affected there are then 3 types of down syndrome that can happen as the result. This seemingly small event has wide reaching consequences and forms the basis for many of our genetic differences today. Source īut, what happens when there is an atypical event during conception? Typically the baby is conceived with 23 chromosome pairs (46 individual chromosomes), when something atypical happens the baby is conceived and at some point, possibly during cell division, with an extra chromosome or sometimes just a piece of chromosomal material. Let’s start with the basics, what is a chromosome exactly? A chromosome is a threadlike structure that carries genetic details in the form of genes, genes are the blueprint details that determine how you will look, what color eyes you will have, whether you will be a good musician, and so many other fine details that make each person an individual. If the genetic material is there, it is important to get the diagnosis so that the child can access early intervention services and qualify for any special needs assistance that can be provided. If the extra genetic material is not there on the 21 st set, the person will not be diagnosed as having Down Syndrome. This diagnosis, post karyotype test, is important because there are some children who may exhibit soft markers for Down Syndrome, but in fact, may not have the extra copy of the 21 st Chromosome. This test is to determine the presence of an extra copy of the 21 st chromosome in the genetic map that makes each person an individual. In order for someone to be diagnosed clinically as having Trisomy 21, or Down Syndrome, there has to have been a genetic karyotype test. Down syndrome is completely different from Autism and other spectrum disorders the two diagnoses have nothing in common unless the individual happens to receive a dual diagnosis later in life. There are actually 3 types of Down Syndrome.īecause of the differing abilities from one individual with Down Syndrome to the next, it is often assumed that Down Syndrome is a spectrum disorder. Did you know that Down Syndrome, otherwise known as Trisomy 21, actually has 3 types? It is a little known fact as most make the assumption when they see someone with down syndrome characteristics that one size fits all, but that is simply not the case.
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