What is Down syndrome?
Apr 11, 2019
Source: Cainiu Health
Dr. Yao Hong
Introduction
Down syndrome is actually a genetic disorder known as trisomy 21, also called Down syndrome. Humans normally have 23 pairs of chromosomes, totaling 46, but individuals with Down syndrome have an extra copy of chromosome 21. Characteristics of Down syndrome include wide-set eyes, frequent tongue protrusion, intellectual disability, and strong survival ability.
Down syndrome is actually a common genetic disorder we often refer to as trisomy 21 or Down syndrome. This condition is uniquely associated with the process of reproduction. In other words, humans normally have 23 pairs of chromosomes (a total of 46), but Down syndrome occurs when there is an error in chromosome 21.
Typically, there is an extra chromosome—meaning individuals with Down syndrome have an additional copy of chromosome 21—resulting in a distinct appearance commonly seen worldwide among affected children, including facial features such as wide-set eyes, frequent tongue protrusion, significantly low intelligence, and strong viability.
Such syndromes should be screened for prior to pregnancy, during early pregnancy, or throughout the pregnancy using certain methods. After screening, genetic diagnostic techniques can confirm whether the fetus is indeed affected by Down syndrome.
