Down
syndrome, formally known as Trisomy 21, stands as a recognizable genetic
condition distinguished by distinct features. These include short stature, an
eyelid fold, wide spacing between the first and second toes, stubby fingers, a
broad head, an enlarged tongue, and a palm crease known as the simian line.
Unfortunately, this condition often comes with mental retardation due to an
extra copy of chromosome 21.
Previously
referred to as "Mongolism," the term is now considered outdated.
Trisomy 21 is a more accurate description as it reflects the presence of three
copies of chromosome 21 in most cases. This anomaly usually arises due to an
egg carrying two copies of the chromosome instead of one. Significantly, the
likelihood of having a child with Down syndrome increases significantly with
maternal age, starting around age 35.
The
occurrence of Down syndrome is approximately 1 in 800 births for mothers under
40 years of age. However, this probability escalates to 1 in 80 for mothers
aged 40 or older. As our understanding of genetics evolves, so too does our
comprehension of conditions like Down syndrome, enabling us to provide support
and care for individuals with this unique genetic profile.
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| Down syndrome |
