Unfortunately, as cool as this might look, there is a number of medical problems associated with this condition. chromosome 22, partial trisomy (22pter-22q11).chromosome 22, partial tetrasomy (22pter-22q11).
chromosome 22, inverted duplication (22pter-22q11).However, not all people suffering from this syndrome exhibit this abnormality - about half of them have regular looking eyes. The defect, known as coloboma, involves the partial absence of ocular tissue in the iris, often affecting both eyes, leading to the elongated blackened area of the pupil which looks like a cat’s eye. The term “cat-eye” is used because a distinctive eye abnormality occurs in some of the affected individuals. The problem has been identified for more than a century, but cat-eye syndrome was more specifically defined in 1965, when researchers reported that some affected individuals have only one or neither of these features. Some individuals with CES have 3 copies in the 22q11 region - this is known as partial tetrasomy. However, in individuals with Cat-Eye Syndrome (CES), the short arm and a region of the long arm are present four times rather than twice in the body’s cells - a phenomenon known as tetrasomy. In individuals with a normal chromosomal make-up, the 22nd pair is made of a short arm, known as 22p, and a long arm, known as 22q. Human cells normally consist of 23 pairs of chromosomes. Faulty chromosomes - what lies beyond the ‘cat eyes’ So, let’s take a look at what the science actually has to say. Since then the image has popped up on several mediums of the internet, along with many misconceptions and downright false claims. This image surfaced on Reddit, showing a young lady suffering from Cat-Eye Syndrome - or as it is scientifically called, Schmid–Fraccaro syndrome.
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