In our extended proving it was revealed to us that your boy suffers from a familial upset called Trisomy 13 or Patau ’ s Syndrome. Trisomy 13 is a syndrome caused by an excess 13th chromosome. As you may be cognizant that worlds have 23 chromosomes in braces of two. In your boy ’ s instance the 13 chromosome has and excess brace. Normally it is thought that a Trisomy occurs when, at construct, either the male parent ’ s sperm or the female parent ’ s egg contained 24 chromosomes alternatively of 23.
When the sperm fertilized the egg the ensuing cell or fertilized ovum which made up the new babe had 47 chromosomes alternatively of the normal 46. When it comes to chromosomes, more is non needfully better. It is a small like adding excessively much of an ingredient into a bar. Even though it may look alright on the exterior, inside it may non good at all. This upset occurs in 1 out of every 20,000 unrecorded births.
It is besides called Patau ’ s Syndrome, after Dr. Klaus Patau, who foremost identified the excess chromosome and published a study depicting Trisomy 13 in 1960. One-half of the victims of Patau ’ s syndrome may non last beyond the first month and about three quarters die within six months. In kernel we can non be precisely certain as to how long your boy will populate, but it can be assured that he will decease of this finally.
Trisomy 13 is associated with multiple abnormalcies, including terrible mental defects and defects of the encephalon that lead to ictuss, hearing loss, and optic abnormalcies. The eyes are little with defects in the flag. Most babies have a cleft lip and cleft roof of the mouth and chunky ears. Heart disease is present in about 80 % of affected babies. Hernias and venereal abnormalcies are common besides.
In general the testing used to find the presence of a familial malformation is non susceptible to misidentify. While looking for marks is merely every bit dependable as the cognition of the physician, the chromosome trial is extremely specialised and is of class dual checkered. As a regulation chromosome analysis is 99.9 % accurate.