trisomy 13

A detailed Summary of trisomy 13


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 quarter


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 knowledge of the doctor, the chromosome test is highly specialized and is of course double checked. As a rule chromosome analysis is 99.9% accurate.



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