Patau Syndrome, more commonly called Trisomy 13, is a genetic disorder that can be relatively common, and involves an instance of someone having three copies of genetic material from chromosome 13, instead of the more typical two copies in normal patients and human beings. In addition, the extra chromosome may be attached to yet another chromosome in a process known as translocation.
The extra chromosomal material interferes with normal human development, and is thought to occur in 1 of about every 10,000 live births in the world. Most cases are not genetic and passed through family inheritance, but rather genes that are made in events in either the sperm or egg at conception, which then manifests itself into Patau Syndrome at birth.
The causes of Patau Syndrome are not well known except for the fact that it occurs in events within the sperm and egg at conception. While Patau Syndrome involves problems occurring in the genes at conception, it is not caused by any sort of genetic inheritance passed down between family members, and thus there is no way to predict its occurrence in any newborns in this manner.
Luckily, Patau Syndrome can be detected through amniocentesis before birth, which studies chromosomes and more in the amniotic cells and can predict whether or not the baby will be born with this condition. Parents can undergo this testing while pregnant and determine their next steps to be taken based on the information.
There are many signs and symptoms of babies born with Patau Syndrome, including decreased muscle tone, close-set eyes that may even be one eye fused together from the two, clenched hands, cleft lip or palate, seizures, missing skin and defects of the scalp, extra fingers or toes, umbilical hernias, and even low-set ears and small eyes.
These symptoms are readily visible when a child grows up, and thus, there can be a stigma involved with the baby being born with Patau Syndrome and having to live life with that condition. More than 80% of these children will die from their symptoms and problems within the first year of their lives.
Other than that, though, generally speaking for the other 20% these children, they can live somewhat normal but challenging lives with the syndrome, and contribute in society, albeit at a slower pace than what is typical. Treatment generally varies and depends on the specific symptoms and issues present at birth.