More Articles
 
 News Headlines
Comprehensive Health Economic Model Dem...
Published:Wed, 25 Apr 2012 05:00:00 -0700
REDWOOD CITY, Calif., April 25, 2012 /PRNewswire/ -- Verinata Health, Inc., a privately-held company dedicated to maternal and fetal health, today announced the peer-reviewed pub......
Great Values Among Battered Medical Tec...
Published:Thu, 19 Apr 2012 12:37:13 -0700
Great Values Among Battered Medical Technology Stocks......
Poland Girl Has Same Disorder as Santor...
Published:Mon, 16 Apr 2012 19:49:25 -0700
Trisomy 18 is a rare genetic disorder in which there is an extra copy of the 18th chromosome. The disorder has received national attention lately because former Republican preside......
Irish women speak out in anger over the...
Published:Thu, 19 Apr 2012 05:38:20 -0700
A group of Irish women have broken their silence to describe the pain of having to travel to the UK for an abortion. The four women spoke to the Irish Times about their difficult ......
'I believe in a loving God and that...
Published:Mon, 16 Apr 2012 17:02:34 -0700
THE PHOTOGRAPH OF the four calm, young women on this page tells us little of what had gone before. They were tired and under stress. Three had been in tears. One had taken a 5am t......
Patau Syndrome

Patau syndrome is a rarely seen genetic disorder, in which an individual receives three copies of genetic material from chromosome 13, instead of the usual two copies that most individuals receive from their parents. Occasionally, this superfluous genetic material may find itself attached to another chromosome. This dislocation is known as genetic chromosomal translocation.

Patau syndrome thus occurs when extra DNA from chromosome 13 appears in some or all of the individual's body cells. The presence of an extra chromosome in all of the individual's body cells is known as Trisomy 13. The presence of this extra, superfluous chromosome in only some of the body's cells is known as Trisomy 13 mosaicism. In a very rare case of Partial trisomy, only a portion of this extra chromosome will be present in some of the body's cells.


Needless to say, this extra genetic material seriously interferes with the normal development of the individual. Fortunately, it only occurs in 1 out of every 100,000 newborns. Contrary to popular belief, Patau syndrome does not seem to be a genetic, inheritable disease. Long running scientific research on the issue seems to point to the conclusion that the chain of events which leads ultimately to Patau syndrome seems to occur in either the sperm or the egg from which the resulting fetus is formed.


There are a number of tell tale symptoms and manifestations which are associated with this pernicious disorder. These symptoms and manifestations will include a cleft lip or palate, with resulting speech impediments and disorders. The hands of the individual may, in fact, be tightly clenched, with some fingers actually on top of others. There may also be extra toes or fingers, in some cases far in excess of the naturally mandated five. The eyes of the individual suffering from Patau syndrome will be extremely close set. In severe cases, the eyes may fuse together into one.


The individual with Patau syndrome will suffer from severe herniation and "hunching". Needless to say, with all of the physical abnormalities present, the individual will also suffer plenty of neurological defects. Severe retardation will almost certainly be present. Patau victims will suffer severely from abnormalities in the area of the skull, such as low set ears, tiny eyes, and, in some cases, even a shrinking of the skull itself. This latter disorder is known as microcephaly.


There will also be a full quota of abnormalities in the skeletal area, such as partial malformations in the limbs (misshapen arms or legs, either abnormally short or long). Individuals suffering from Patau syndrome are mercifully sterile and short lived. More than 80% of infants diagnosed with Patau syndrome will die in their first year.


Complications associated with Patau syndrome will begin immediately, usually commencing with the diagnosis of congenital heart disease. The patient will suffer from severe apnea (breathing difficulty). They may exhibit signs of deafness, and be prone to seizures. Heart failure will occur several times before the final heart attack that normally concludes the life of the sufferer.


DiggDigg   | RedditReddit   | Add to Mixx!MixxDeldel.icio.usStumble Stumble it!Bookmark and Share Share it

© 2012 | Privacy Policy | Powered By Noomle.com | SiteMap