Trisomy 13 syndrome

Trisomy 13, sometimes called Patau Syndrome, is a rare chromosomal genetic disorder in which the affected person has three copies of genetic material (DNA) from chromosome 13 in their body’s cells; the majority of people have two copies from every chromosome. In even rarer cases, the extra material is attached to other chromosomes during the formation of the reproductive cells. Needless to say, this extra DNA material interferes with what is supposed to be normal growth and development. Learn about the different types of the condition, symptoms, diagnosis, prognosis, treatment, and complications of Trisomy 13 Syndrome.

Types of Trisomy 13
There are three different types of this abnormality of chromosome 13. Trisomy 13 is the presence of an extra chromosome 13 in all of the cells. Trisomy 13 mosaicism is the presence of an extra chromosome 13 in some of the cells. Partial trisomy is the presence of a part of an extra chromosome 13 in the cells.

Symptoms
Symptoms of Trisomy 13 depend on the severity of the problem, but can include: cleft lip or palate, close-set eyes (sometimes fused together into one), small eyes, decreased muscle tone, extra fingers or toes (known as polydactyly), hernias, low-set ears, mental retardation ranging in severity, scalp defects, seizures, skeletal abnormalities, small head, small lower jaw, undescended testicles (cryptorchidism), cardiac defects, polycystic kidneys, and other renal malformations.

Diagnosis
There are different ways to diagnose Trisomy 13. Possible tests include: gastrointestinal x-rays or ultrasound that may show rotation of the internal organs; MRI or CT scans of the head might possibly reveal a problem with the brain structure (a problem called holoprosencephaly, or the joining together of the two sides of the brain); lastly, chromosome studies can show any types of Trisomy 13. At birth, an infant with Trisomy 13 might have a single umbilical artery at birth or signs of congenital heart disease, such as abnormal placement of the heart, arterial septal defect, patent ductus  arteriosus, and ventricular septal defect.

Prognosis
The prognosis for infants with Trisomy 13 is not very good. About 80% of them don’t make it past the first few weeks of life. Very few of the children affected by Trisomy 13 live past the first year of life.

Treatment
There aren’t many successful treatments that work for Trisomy 13 Syndrome. Since everyone infant’s condition is different, treatment involves focusing on the individual’s physical and medical conditions. With severe neurological problems and severe heart defects, it is hard for a child to survive, despite the treatment that is given. Surgery may be necessary in some cases, for example, to repair a cleft lip and/or palate. Different types of therapy—physical, occupational, and speech—will be essential for an individual to live as close to normal of a life (if he or she makes it past the first year) as is possible. Before birth, while a woman is pregnant, Trisomy 13 can be diagnosed by amniocentesis with chromosome studies of the amniotic cells. Individuals can have genetic counseling to determine whether or not a future child will have Trisomy 13 Syndrome. In order to understand an individual’s risk of carrying a child with Trisomy 13, genetic counseling can be done and explained.

Complications

Since there are so many medical complications associated with Trisomy 13, complications begin immediately after life begins, or possibly even before birth. As mentioned above, many infants with Trisomy 13 also have congenital heart disease. Possible complications other than that may include breathing difficulty, apnea (lack of breathing), deafness, feeding problems, heart failure, seizures, and vision problems. With all these problems, unfortunately, it is difficult for the infant to make it very far in life.

Last updated on Dec 2nd, 2010 and filed under Other Conditions & Diseases. Both comments and pings are currently closed.

Comments are closed