A US woman was diagnosed with Down syndrome at the age of 23, despite not having any obvious symptoms of the disease. It has been reported daily mail.
Michigan resident Ashley Zambelli suffered from symptoms for years, including a rapid heartbeat. As a child, the patient suffered from occasional learning problems and also suffered from dislocated knee and jaw problems. But doctors have never linked these symptoms to Down syndrome.
The correct diagnosis was made after they had three children with Down syndrome. Genetic testing confirmed that the woman had an extra chromosome.
The absence of pronounced symptoms is explained by the fact that the woman has a rare form of Down syndrome, mosaic. It affects only 2% of patients and does not always cause disease-specific physical symptoms.
In Down syndrome, each cell has an extra chromosome, while only some cells are found in the mosaic. The common form of the syndrome causes symptoms such as a flattened face, small ears, and problems with learning, communication, and heart disease, especially around the nose. Two-thirds of people with Down syndrome develop Alzheimer’s before age 60. In some cases, the low muscle tone caused by the disease can also cause frequent dislocation of the limbs.
Most people with Down syndrome die before age 70. According to the Daily Mail, there are no studies showing that people with a mosaic pattern can live longer. However, the oldest woman with mosaic Down syndrome lived to be 83.
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