Post by Queen Susan the Gentle on Oct 22, 2008 0:39:31 GMT -4
Patau Syndrome (Trisomy 13)
Patu Syndrome, first discovered in 1960 and known as cytogenetic syndrome, is the least common and most severe form of the Trisomys. A majority of the pregnancies inflicted undergo spontaneous abortions, unintentional death of the child, or are stillborn, a case in which a child is born dead. Most of the few who live to survival normally live only up to three days, if not less. Only 1 out of 20 children live to see six months of life. The few who do live past such a young age tend to live much better off then the ones who die young, though they still live with some side effects. In the United States it appears in approximately 1 out of every 8,000-12,000 live births unaffected by ethnicity or race. It is an added chromosome to the thirteenth pair similar to Down Syndrome (23 homologous pair) or even closer to Edwards Syndrome (18 homologous pair). The effects of Patu Syndrome are from this non-disjunction, an odd number of chromosomes, normally effect females simply because males tend to die before birth. Even after birth females tend to be some of the few who live to older age. The cause of the illness is still unknown for the time being, but there are surgical procedures that can help right what went wrong, but most fail and mostly the treatment depends on the condition of the parent and the child.
Genetic testing is done due to the close symptoms between Patu Syndrome and Edwards Syndrome. computed tomography and magnetic resonance imaging are ways used to check the brain, heart and kidney. An ultrasound is used on the heart as well to search for any heart diseases related to Patu Syndrome. Immediately, 80% of infants who do not die before birth develop congenital heart disease. Others are born with different numbers of fingers or toes or even have deformed feet. There can also be a possibility that the brain will not divide while the child is still unborn leading to severe mental disability. In rare cases of facial defect the eyes are far closer than they should, some fusing together to form a single eye. In the future it can cause breathing difficulty or no breathing at all, deafness, seizures, vision problems, and feeding problems. Adults who live with Patu Syndrome sometimes develop Holoprosencephaly, a frequent brain malformation. 69% of those who live to adulthood die from the development of cardiopulmonary arrest, 13% of the same group die from the development of congenital heart disease, much different than the initial 80% in infants, and 4% die from pneumonia.
Patau Syndrome (Trisomy 13)
Extra copy of chromosome 13
By Mary Kugler, R.N., About.com
Updated: December 24, 2005
About.com Health's Disease and Condition content is reviewed by our Medical Review Board
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• genetic disorders
• birth defects
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Patau syndrome, Trisomy 13, is the least common of the autosomal trisomies, after Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18). The extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart defects which make it difficult for infants to survive. The exact incidence of Patau syndrome is not known, although it appears to affect females more than males, most likely because male fetuses do not survive until birth. Patau syndrome, like Down syndrome, is associated with increased age of the mother. It may affect individuals of all ethnic backgrounds.
Symptoms
Newborns with Patau syndrome share common physical characteristics:
• Extra fingers or toes (polydactyly)
• Deformed feet, known as rocker-bottom feet
• Neurological problems such as small head (microcephaly), failure of the brain to divide into halves during gestation (holoprosencephaly), severe mental deficiency
• Facial defects such as small eyes (microphthalmia), absent or malformed nose, cleft lip and/or cleft palate
• Heart defects (80% of individuals)
• Kidney defects
Diagnosis
The symptoms of Patau syndrome are evident at birth. Patau syndrome may be mistaken for Edwards syndrome, so genetic testing should be done to confirm the diagnosis. Imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) should be done to look for brain, heart, and kidney defects. An ultrasound of the heart (echocardiogram) should be done given the high frequency of heart defects associated with Patau syndrome.
Treatment
Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.
Genetic counseling and support
Parents of a child born with Patau syndrome will receive genetic counseling to determine what their risk is of having another child with the syndrome. A good resource for information and support is the Support Organization for Trisomy 18, 13 and other Related Disorders (S.O.F.T.).
Information for this article was taken from:
Best, R.G., Stallworth, J., & Dacus, J.V. (2002). Patau syndrome. eMedicine, accessed at www.emedicine.com/ped/topic1745.htm
Suggested Reading
Edwards syndrome (Trisomy 18)About.com Pediatrics: Down Syndrome Facts
Elsewhere on the Web
Living With Trisomy 13Support Organization for Trisomy 18, 13 and other Related Disorders (S.O.F.T.)
Related Articles
• Holt-Oram Syndrome
• Eisenmenger Syndrome - Pulmonary Hypertension
• CHARGE Syndrome - Genetic Birth Defect
• Down syndrome
• Noonan Syndrome
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