Monday, April 16, 2012

Different forms of Trisomy 13

Helpful Resources!

Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) -- This resource address the diagnosis of Trisomy 13: Medline Plus Encyclopedia: Trisomy 13,You might also find information on the diagnosis of Trisomy 13 in Educational resources and Patient support. These may also help you to read and learn more about Trisomy 13: Medline plus - Health information, Genetic and Rare Diseases Information Center.  Information about genetic conditions and rare diseases:  Educational resources. Information pages: Patient support . These are for healthcare professionals and researchers:, PubMed.

How to prevent Trisomy 13:

Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells. Parents of infants with Trisomy 13 that is caused by a translocation should have genetic testing and counseling, which may help them avoid having another child with the condition. Call for an appointment with your doctor if you have had a child with Trisomy 13 and you plan to have another child. Genetic counseling can help families understand the condition, the risk of inheriting it, and how to care for the patient.

Trisomy 13 was first observed by Thomas Bartholin in 1657, but the chromosomal nature of the disease was by Dr. Klaus Patau in 1960.  Patau Syndrome was named after Dr. Klaus Patau.

How often does Trisomy 13 occur?

Trisomy 13 can occur in 1 out of every 10,000 newborns and it is estimated that Trisomy 13 occurs in one out of every 5,000-20,000 live births. Although women of any age can have a child with Trisomy 13, the chance of having a child with this condition increases as a woman gets older. Since there are so many complications with Trisomy 13 when a child is born, they usually die within their first days or weeks of life. Only five percent to ten percent of children with this condition live past their first year. Trisomy 13 is also the third most common Autosomal Trisomy in newborns, after Down's syndrome (Trisomy 21) and Edwards' syndrome (Trisomy 18). It is estimated that Trisomy 13 occurs in one out of every 5,000-20,000 live births. A huge proportion of Trisomy 13 pregnancies end in miscarriage. Of the Trisomy 13 live births, the median survival time is 7-10 days, and the vast majorities (90-95%) of affected patients die within one year. Survival times of up to 10 years have been reported for Trisomy 13 patients, although these cases are extremely rare. It is rare because of the Trisomies; Trisomy 13 usually has the most birth defects.

Symptoms of Trisomy 13

Cleft lip or palate, clenched hands (with outer fingers on top of inner), decreased muscle tone, extra fingers or toes, hernias, scalp defects, single palmar crease, small eyes, small lower jaw, close-set eyes, low-set ears, hole split or cleft in iris, mental retardation, seizures, limb abnormalities, small head, and undescended testicle.

What exactly is Trisomy 13?

A genetic disorder in which there is three copies of genetic material from chromosome 13 instead of two.