Patau syndrome is a rare genetic disorder caused by the presence of an extra copy of chromosome 13.
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It occurs in approximately 1 in 10,000 to 1 in 16,000 live births.
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The condition is characterized by severe developmental abnormalities and intellectual disabilities.
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Babies with Patau syndrome often have multiple physical malformations, including cleft lip and palate, extra fingers or toes, and heart defects.
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Many affected infants do not survive beyond the first year of life, and the survival rate is generally low.
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Advanced maternal age is a risk factor for having a child with Patau syndrome, but it can occur in women of any age.
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Diagnosis of Patau syndrome is confirmed through genetic testing, such as amniocentesis or chorionic villus sampling.
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Treatment mainly focuses on managing the symptoms and providing supportive care for affected individuals.
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The emotional and psychological impact on families with a child diagnosed with Patau syndrome can be significant, and support services are essential for coping with the challenges.
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