Down Syndrome (다운증후군)

The British physician John Langdon Down (1828 - 1896) was a man far ahead of his time. Not only did he argue for the higher education of women, but he was also passionate about the humane treatment of the mentally handicapped. In fact, Down went on to become the medical superintendent of a mental institution in Surrey. While there, he described the physical features of a "mongoloid" disorder, which included mental retardation , flattened facial features, upward-slanting eyes, a small head, and unusually shaped ears. This condition went on to be named, in his honor, Down syndrome.

 

비록 다운은 1866년에 이런 증상을 발견했지만, 유전적인 원인은 거의 100 여년 이후에나 발견되었다. 1951년에 프랑스의 유전학자 Jérôme Jean Louis Marie Lejeune (1926 - 1994) 는 이런 장애를 가진 사람들은 추가 복제되어 있는 염색체 21번을 갖고 있다는 사실을 발견하였다.

 

Today, researchers know there are three ways for a child to wind up with that extra chromosome. In about 90 percent of Down syndrome cases, the sperm or egg cell experiences abnormal division, resulting in three copies of chromosome 21 ― called trisomey 21 ― in every cell in the body. With mosaic Down syndrome, the cells experience abnormal division after fretilization; these children have some cells with the extra chromosome 21, but not all. The last, and most uncommon, form occurs when part of chromosome 21 becomes attached to another chromosome. This form is called translocation Down syndrome.

 

다운 증후군이 있는 어린이들은 정신지체 에다 또한 고위험도의 심장결함, 백혈병, 약해진 면역체계 그리고 치매까지 겪게 된다. 현대과학과 조기치료는 다운 증후군을 가진 사람들의 평균수명을 드라마틱하게 올리고 있다. 20세기 초반에는 대부분의 이런 증상을 가진 아기들이 10살 넘어까지 살지 못했다. 오늘날, 그러나 다운증후군 사람들은 자주 50살이 넘어서까지 살고 있다.

 

 

Mothers who give birth at an older age are more likely to have children with Down syndrome. By age 45, the risk increases to 1 in 30.

 

Blood tests and untrasounds can calculate the risk that a baby in the womb has Down syndrome.

 

Modern prenatal diagnostic testing with chorionic villus sampling (taking a tiny piece of placenta) or amniocentesis (using a needle to remove a teaspoon of fluid from around the baby in the uterus) can accurately detect Down syndrome.