Friday, February 23, 2018

A Look at the Types of Down Syndrome


Giuseppe “Joe” Caira leverages over two decades of contracting and construction experience as the owner of GC General Contractors and Custom Home Builders, LLC. Outside of his professional work, Giuseppe Caira supports food banks in New Jersey and Pennsylvania, and is also active in a Down syndrome awareness group. 

Down syndrome, which affects approximately one out of every 700 individuals, is a genetic condition that develops when an extra chromosome is present. This extra chromosome affects development and leads to physical symptoms that include low muscle tone, a short stature, and irregularities in the person's facial features. Moreover, the condition can cause intellectual disabilities, heart defects, and other serious medical conditions.

There are three forms of down syndrome. The first and most common, trisomy 21, results when an extra chromosome fails to separate from an embryo, leading to its replication in every cell of the body. Alternatively, Mosaicism occurs when some cells include a normal set of chromosomes and some include the extra one. Mosaicism is the least common form, and may result in fewer manifestations than the other types. Finally, translocation occurs when the extra chromosome attaches to another chromosome in the body’s cells.

With the advances of modern medicine, people affected by Down syndrome are living longer than ever before. They are also increasingly being integrated into society, such as in school and work environments, in ways that were previously not possible. Down syndrome awareness groups help to pave the way for this deeper involvement by increasing the public's knowledge and acceptance of those with the condition.