By now, I hope you have clicked on the 5P-Society link at the bottom of my posts, if you haven’t had a chance to, here is the link 5p- Society.

Meanwhile, just in case you still haven’t clicked, here is one of the FAQs

Diagnosis

How is Cri du Chat Syndrome diagnosed?

Cri du Chat syndrome is diagnosed by a blood test that is put through a full genetic testing.

There are various tests that can be used to determine if your child has Cri du Chat Syndrome.  The first is a simple Chromosome Analysis also known as a Karyotype.

The Karyotype will map our your chromosomes and will let you know if something is missing (or added).  An example of a karyotype for Cri du Chat Syndrome would be:  46,xx,del5p14.2.  To translate this it would be as follows:  the number “46” means that you have 46 chromosomes (23 pair); “xx” in this case means it is a girl with two “x” chromosomes (a boy would be “xy”); del5p indicates that there is a deletion on the 5th chromosome, “p” arm.  A chromosome consists of a “p” or short arm and a “q” or long arm and then the centromere which is in the area where the “p” and “q” connect.  Next the 14.2 is the location on the “p” arm that the deletion has occurred.

Another test that is being used is called FISH testing.

FISH stands for fluorescence in situ hybridisation. This test looks for gene changes in cells. Genes make up your DNA and control everything the cell does, including when it grows and reproduces. FISH tests look for specific genes or parts of genes.  The FISH test can also be used when providing a diagnosis for Cri du Chat Syndrome and may provide a very similar karyotype as above.

A third test, and also the newest testing that families are seeing done with their children, is called Chromosome Microarray Analysis.

A Microarray analysis is a DNA-based method of genetic analysis, used to identify significant chromosome abnormalities.  The way it works is a DNA sample is prepared and hybridized to a glass slide.  Then a large number of molecular probes are arrayed.  The probes have small segments of DNA from the patient and are compared to a control DNA.  This type of analysis is able to diagnose deletions and duplications of whole chromosomes, portions of chromosomes, and specific locations.  A chromosome analysis from a Microarray will have more information on it and will provide you with the exact location of the deletion or duplication.

But regardless of the testing, Emily is not a syndrome.

She is a young lady with dreams and aspirations!

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