Trisomy 13 (thing)

Trisomy 13, also known as Patau Syndrome, is caused by a third copy of the thirteenth gene. It was first described in 1657, but four hundred fifty years of medical knowledge have not improved the outlook for children born with this syndrome. Most babies who are conceived with trisomy 13 die early in gestation. Of those who live to be born, about 44% die within the first month and 69% die by six months. The few who live past their first year have feeding problems, seizures, kidney problems, developmental delays, and spinal problems.

Problems present at birth may include some of the following:

• Small birth weight
• Abnormalities of the face and head including a small head, abnormalities in the facial and skull bones, sloping forehead
• Defects in eye development or failure of the eye to develop at all (Sometimes the infant has only a single eye. They are often blind.)
• Deafness
• Cleft lip and palate
• Anatomical defects of the brain
• Severe learning disabilities
• Problems with breathing control
• Abnormalities of the hands and feet with extra fingers and toes
• Heart defects such as atrial and ventricular septal defects (a hole between the chambers of the heart), a patent ductus arteriosus (where a channel in the heart fails to close and the blood flows the wrong way) or a completely reversed heart
• Abnormalities of the genitals

Our farthest advances have been in early detection. Trisomy 13 is often detectable on ultrasound by 10 weeks. As early as 12 weeks, it can be seen in chorionic villus sampling. Amniocentesis, usually performed after 16 weeks gestation, can give a definite answer if any question still remains.

Often trisomy 13 is associated with older mothers. Even so, the risk of having another baby with trisomy 13 is usually very low -- unless the trisomy 13 is a translocation. A translocation is not associated with mom's age, but is a hereditary chromosome problem. The risk of recurrence in some types of translocations can be quite high. The inheritance of trisomy 13 is very complex. By testing the blood of both parents, a geneticist can give parents the best available information.

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sources
http://www.cpdx.com/cpdx/trisom13.htm
http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm
http://www.drgreene.com/21_614.html