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when a child is not developing as expected the medical team investigate to find out what's going on some of the tests they perform look at a child's genetic material so what does this involve each human body is made of millions of cells each cell contains 23 pairs of chromosomes half we inherit from our mum and half we inherit from our dad chromosomes are stick like structures with genes scattered along their length this whole structure is made of DNA our genes control all aspects of how we develop including organs such as our brain one important genetic test when investigating a child is a chromosome microarray test this test examines the chromosomes to find out if there are pieces missing or gained any piece of a chromosome that is missing or gained is called a copy number variant known as a C and V we all have seen these most of which are harmless they are part of the natural process of evolution however if the CMV removes or adds an important gene it can cause problems genetic test results are not always black and white what are the rules of thumb when making sense of the test our interpretation of the results depends on which part of the chromosome is involved and the size of the chunk that's deleted or doubled up if a C and V is small and doesn't contain an important gene it may be harmless when a C and V is inherited from a healthy parent then it is likely to be harmless but when a C and V has started new in a child then it may be harmful C + V s where a large chunk of genetic material is lost tend to be more harmful than C and V s where there is a gain in genetic material each case has to be assessed individually so each genetic test results showing a cnv requires careful consideration when we're trying to determine the cause of a child's problem sometimes the C&V explains the diagnosis sometimes it doesn't and sometimes it's a maybe we are constantly learning more and looking out for patterns and children with similar CNB's and conditions the database that map's variations in genes to symptoms and diseases is a work in progress our knowledge is expanding but not complete