Patau Syndrome Health Article

Prognosis

Approximately 45% of trisomy 13 babies die within their first month of life; up to 70% in the first six months; and over 70% by one year of age. Survival to adulthood is very rare. Only one adult is known to have survived to age 33.

Most survivors have profound mental and physical disabilities; however, the capacity for learning in children with Patau syndrome varies from case to case. Older children may be able to walk with or without a walker. They may also be able to understand words and phrases, follow simple commands, use a few words or signs, and recognize and interact with others.

BOOKS

Gardner, R. J. McKinlay, and Grant R. Sutherland. Chromosome Abnormalities and Genetic Counseling. New York: Oxford University Press, 1996.

Jones, Kenneth Lyons. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: W.B. Saunders Company, 1997.

PERIODICALS

Baty, Bonnie J., Brent L. Blackburn, and John C. Carey. "Natural History of Trisomy 18 and Trisomy 13: I. Growth, Physical Assessment, Medical Histories, Survival, and Recurrence Risk." American Journal of Medical Genetics 49 (1994): 175–87.

Baty, Bonnie J., et al. "Natural History of Trisomy 18 and Trisomy 13: II. Psychomotor Development." American Journal of Medical Genetics 49 (1994): 189–94.

Delatycki, M. and Gardner, R. "Three cases of trisomy 13 mosaicism and a review of the literature." Clinical Genetics (June 1997): 403–7.

ORGANIZATIONS

Rainbows Down Under—A Trisomy 18 and Trisomy 13 Resource. SOFT Australia, 198 Oak Rd., Kirrawee, NSW 2232. Australia 02-9521-6039. <http://members.optushome.com.au/karens>.

Support Organization for Trisomy 18, 13, and Related Disorders (SOFT). 2982 South Union St., Rochester, NY 14624. (800) 716-SOFT. <http://www.trisomy.org>.

OTHER

Pediatric Database (PEDBASE) Homepage. <http://www.icondata.com/health/pedbase/files/TRISOMY1.HTM>. (09 February 2001).

"Trisomy 13." WebMD <http://my.webmd.com/content/asset/adam_disease_trisomy_13>. (09 February 2001).

Paul A. Johnson

KEY TERMS

Aminocentesis—A procedure performed at 16–18 weeks of pregnancy in which a needle is inserted through a woman's abdomen into her uterus to draw out a small sample of the amniotic fluid from around the baby. Either the fluid itself or cells from the fluid can be used for a variety of tests to obtain information about genetic disorders and other medical conditions in the fetus.

Chorionic villus sampling (CVS)—A procedure used for prenatal diagnosis at 10–12 weeks gestation. Under ultrasound guidance a needle is inserted either through the mother's vagina or abdominal wall and a sample of cells is collected from around the fetus. These cells are then tested for chromosome abnormalities or other genetic diseases.

Chromosome—A microscopic thread-like structure found within each cell of the and consisting of a complex of proteins and DNA. Humans have 46 chromosomes arranged into 23 pairs. Changes in either the total number of chromosomes or their shape and size (structure) may lead to physical or mental abnormalities.

Karyotyping—A laboratory procedure in which chromosomes are separated from cells, stained, and arranged so that their structure can be studied under the microscope.

Mosaicism—A genetic condition resulting from a mutation, crossing over, or nondisjunction of chromosomes during cell division, causing a variation in the number of chromosomes in the cells.

Translocation—The transfer of one part of a chromosome to another chromosome during cell division. A balanced translocation occurs when pieces from two different chromosomes exchange places without loss or gain of any chromosome material. An unbalanced translocation involves the unequal loss or gain of genetic information between two chromosomes.

Trisomy—The condition of having three identical chromosomes, instead of the normal two, in a cell.

Ultrasound—An imaging technique that uses sound waves to help visualize internal structures in the body.