Support
Sadly, many of the children with Patau Syndrome do not reach their first birthday. Let us support and help raise awareness and funds to families with children with Patau Syndrome. Go to www.trisomy.org for more information on how to help and donate.
Patau Syndrome, also called Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants. Trisomy refers to three copies of a chromosome instead of the normal two and in Trisomy 13 there is the presence of an extra #13 chromosome. Approximately 80% of infants with Trisomy 13 syndrome will have a full trisomy (affecting all cells) while the remainder will have a trisomy due to a rearrangement of cells called a translocation (an attachment of all or part of one chromosome to another chromosome) or have mosaicism (two different cell lines in an individual such as normal cells and trisomy cells).
Infants born with Trisomy 13 have a recognizable pattern of physical features that often allows the health professional to make the diagnosis of the syndrome. (Genetic testing must be done to confirm diagnosis.) Notable physical birth defects and, sometimes, anatomic changes of internal organs are present. Findings of significance include small head size (microcephaly); small eyes (microphthalmia) or sometimes an absent eye or faulty development of the retina. Cleft lip or cleft palate or both occur in about 60% of children. In addition, there are a number of less medically significant physical findings that are helpful in diagnosis. These include variations of ear shape, changes on the palm of the hand, and extra fingers and toes. Changes in foot development, including changes to the heel, the so-called rocker bottom foot, can occur.
Source of information: John C. Carey, MD, MPH, Medical Advisor for SOFT
Professor of Pediatrics and Genetics, University of Utah
Copyright 2012
Support Organization for Trisomy 18, 13 and Related Disorders
2982 South Union St. Rochester, NY 14624 800-716-7638
www.trisomy.org
