What Is Trisomy 13?
Trisomy 13 is a syndrome caused by an extra 13th chromosome. 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. (Lancet, 1960 April, 1, 790-793 and also J.Pediat., 1960, 57, 338). Similarly, Trisomy 18 is caused by an extra 18th chromosome and is also called Edward's Syndrome after Dr. John Edward's the doctor who identified and described the syndrome.
A syndrome is a collection of signs and symptoms, which, together form an identifiable inherited abnormality. Dr. John Langdon Down first described Trisomy 21 (Down's Syndrome) in 1866. However it was not until 1959, when scientists were able to see chromosomes under a microscope that Dr. Lejeune, in Paris, was able to identify the third chromosome as the cause of Trisomy 21.
Chromosomes are the blueprints of our bodies and to put it simply, the presence of an extra chromosome severely skews the schematics when the body is forming. Trisomy 18 and 13 can cause severe birth defects such as deformed body parts, missing and/or deformed organs, blindness, deafness, cleft lip and cleft palette, extra fingers and toes, and severe mental retardation. In most cases the multitude and severity of the defects are incompatible with life. However, in our research of this disorder, we have found several children locally, across the country and throughout the world who are surviving despite the odds (and doctors) against them. As always, each child is very different and is effected differently by this disorder and should be treated as an individual. Some are effected much less severely than others, as was the case with Nathan.
Trisomy 21, the most common Trisomy, has the least detrimental effect - normally mild to moderate retardation.
The following image shows the chromosomal make-up of Trisomy 13. You can see the extra chromosome number 13.
For more information on Trisomy please select a link below.
S.O.F.T.
(Support Organization for Trisomy 18, 13 and Related Disorders)
Be sure to review the "For Professionals" link on this page.