Patau's Syndrome

DiagnosisPatau's Syndrome can be diagnosed by observing a single umblical artery at birth, the rotation of organs by means of an ultrasound or gastrointestinal X-rays, or the joining of the brain by means of a Catscan or MRI

Symptoms usually appear immediately after birth and continue to present themselves in the months after

-low birth weight-cleft lip/palate-close-set eyes (eyes may fuse into one)-decreased muscle tone-extra fingers/toes -hernias (protrusion of an organ or tissue through an opening in its surrounding walls)

-hole, split, or cleft in the iris -severe intellectual disabilities-scalp defects-seizures-skeletal abnormalities-single palmar crease-small/ poorly developed eyes, -head, lower jaw-undescended testicle

Patau's Syndrome is caused as the result of a random nondisjunction, a mutation that occurs during meiosis, when chromosomes fail to seperate properly.

Patau's syndrome is autosomal: it involves a change in somatic chromosomes (body cells)

DNA plays a role in Trisomy 13 because an extra chromosome results in DNA that codes for a different amino acid, and therefore a different function and possibly body part/organ.

Patau's Syndrome is a genetic disorder in which there are more than two copies of chromosome 13 (also known as Trisomy 13), resulting in major physical and mental defects

Symptoms/Effect on Body

Genetics

Patau's Syndrome

TreatmentTreatment for Patau's Syndrome is specific to the case, and may require multiple surgeries and corrections for disfigurations and misfuntions caused by trisomy, as well as counselfrom various specialists such as nerve specialists, eye correction, kidney and bladder help, and more.

The Fight Against Patau's Syndrome

Research for the CureThere is no cure yet for Trisomy 13. Research for the cure is done in an attempt to fix the problems caused by Trisomy 13 rather than the initial chromosome. These include ways to fix the physical defects, mental complications, and other mutations

Patau's Syndrome does not affect any popluations more than another as it is the result of a random nondisjunction rather than something inheirited and occurs in one out of 16,000 babies born.

The life expectancy for Patau's Syndrome is tragically short: more than 80% of diagnosed die within their first year

Sandy Yang