Trisomy 13 (Patau Syndrome) Dr. C.J Gamble

Trisomy 13 (Patau Syndrome) Dr. C.J Gamble To the Parents or Legal Guardians of Patient XC902-V42 In our extensive testing it was revealed to us that your son suffers from a genetic disorder called Trisomy 13 or Patau’s Syndrome. Trisomy 13 is a syndrome caused by an extra 13th chromosome. As you may be aware that humans have 23 chromosomes in pairs of two. In your son’s case the 13 chromosome has and extra pair. Normally it is thought that a Trisomy occurs when, at conception, either the father’s sperm or the mother’s egg contained 24 chromosomes instead of 23. When the sperm fertilized the egg the resulting cell or zygote which made up the new baby had 47 chromosomes instead of the normal 46. When it comes to chromosomes, more is not necessarily better. It is a little like adding too much of an ingredient into a cake. Even though it may look alright on the outside, inside it may not good at all. This disorder occurs in 1 out of every 20,000 live births. It is also called Patau’s Syndrome, after Dr. Klaus Patau, who first identified the extra chromosome and published a report describing Trisomy 13 in 1960. Half of the victims of Patau’s syndrome may not survive beyond the first month and about three quarters die within six months. In essence we cannot be exactly sure as to how long your son will live, but it can be assured that he will died of this eventually. Trisomy 13 is associated with multiple abnormalities, including severe mental defects and defects of the brain that lead to seizures, deafness, and ocular abnormalities. The eyes are small with defects in the iris. Most infants have a cleft lip and cleft palate and low-set ears. Heart disease is present in approximately 80% of affected infants. Hernias and genital abnormalities are common also. In general the testing used to determine the presence of a genetic deformity is not susceptible to mistake. While looking for signs is only as reliable as the kn…

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