Cat eye syndrome

Cat eye syndrome

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It was an afternoon in which was checking my social network when I stumbled by chance with a picture of a model which made reference that I had cat eye syndrome. At first I thought it was a joke but I wanted to make sure if there was indeed such a syndrome. I started researching on the net and found the following information.

Cat eye syndrome is a human disease that is caused by an chromosomal abnormality. It is a disease in which the number of chromosomes is altered. It is characterized by the existence of 3 or 4 copies of a fragment of chromosome 22 . There are 2 copies of each of the chromosomes in a normal cell, diseases in which a chromosome is tripled are called trisomies and when quadrupled are called tetrasomías. Cat eye syndrome It may correspond to a Trisomy or tetrasomy.

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Patients who suffer from it have a series of malformations affecting various organs and are present from the moment of birth. Among them is the existence of ocular coloboma , where the name of the condition, also comes anal atresia, malformations of the heart and kidneys, characteristic facial appearance and delay mental. There is great variability in the manifestations and severity of them. There is a case by 74,000 births, so it is considered a rare disease .

I hope the information has been useful. Greetings and blessings.