Patau Syndrome
Patau syndrome is a disorder that affects its victims from the moment of their birth (1,2). The disease is named after Dr. Klaus Patau, a German American geneticist, who described the syndrome in 1960 (3). Geneticist is a biologist that specializes in genetics (4). The disease is also known by the name Bartholin-Patau syndrome. This refers to Dr. Klaus Patau and Erasmus Bartholin. Erasmus Bartholin was the original discoverer of Patau syndrome but Bartholin was unable to explain the causes of the disease (3).
The Causes and Effects of Patau Syndrome
Patau Syndrome occurs due to the chromosome 13. Whether or not an extra copy of the chromosome is found or it is altered; these are both causes for the disease (1). Trisomy 13, another name given to the disorder, is when a person has "3 copies of genetic material from chromosome 13, instead of the usual 2" (5). When the extra chromosome is attached to another chromosome it is known as translocation, which is a cause of this …show more content…
In fact, most victims of this disease die within two to three days (3). A case report published by the APA analyzes a Caucasian woman who suffered from Patau syndrome and how it affected her 17 siblings.
Eight of them died within the first few weeks of life. Another five died between the ages of 10 and 34 as a result of the medical complications of the syndrome; these siblings had mental retardation and psychosis. One living sibling, a 30-year-old man, suffered from mental retardation and psychosis. Three other siblings, two men and one woman, had no chromosomal abnormalities and are healthy (1).
The patient herself suffered from seizures and had many physical and mental abnormalities. Despite this, the patient graduated from a special education high school (1). This victim underwent a large variety of treatments that helped her live to adulthood.
Risk
Patau syndrome is a disorder that affects its victims from the moment of their birth (1,2). The disease is named after Dr. Klaus Patau, a German American geneticist, who described the syndrome in 1960 (3). Geneticist is a biologist that specializes in genetics (4). The disease is also known by the name Bartholin-Patau syndrome. This refers to Dr. Klaus Patau and Erasmus Bartholin. Erasmus Bartholin was the original discoverer of Patau syndrome but Bartholin was unable to explain the causes of the disease (3).
The Causes and Effects of Patau Syndrome
Patau Syndrome occurs due to the chromosome 13. Whether or not an extra copy of the chromosome is found or it is altered; these are both causes for the disease (1). Trisomy 13, another name given to the disorder, is when a person has "3 copies of genetic material from chromosome 13, instead of the usual 2" (5). When the extra chromosome is attached to another chromosome it is known as translocation, which is a cause of this …show more content…
In fact, most victims of this disease die within two to three days (3). A case report published by the APA analyzes a Caucasian woman who suffered from Patau syndrome and how it affected her 17 siblings.
Eight of them died within the first few weeks of life. Another five died between the ages of 10 and 34 as a result of the medical complications of the syndrome; these siblings had mental retardation and psychosis. One living sibling, a 30-year-old man, suffered from mental retardation and psychosis. Three other siblings, two men and one woman, had no chromosomal abnormalities and are healthy (1).
The patient herself suffered from seizures and had many physical and mental abnormalities. Despite this, the patient graduated from a special education high school (1). This victim underwent a large variety of treatments that helped her live to adulthood.
Risk