Junes’ Topic: Down syndrome
Disclaimer: Author Note: I am in no a professional of any kind. I am strongly against self-diagnosis, and encourage my audience to please seek the professional advice of their own trusted medical professional and any other trusted professional depending on the topic at hand.
The Abler Blog ONLY PROVIDES LIMITED GENERAL INFORMATION, and ALWAYS CITES WHERE THEY FIND THEIR RESOURCES AND OR INFORMATION.
Jessica Niziolek,
Founder Of The Abler Blog, and online community.
Resourced used for this month’s topic:
National sown syndrome society:
https://www.ndss.org/about-down-syndrome/down-syndrome/
What Is Down syndrome?
The human body carries a nucleus where genetic materials is stored in genes. Genes are grouped along rod-like structures called, “Chromosomes.” The nucleus carries twenty-three Chromosomes-half of which are inherited by each parent. Down syndrome happens when someone has a partial or full copy of Chromosome twenty-one. With this additional material changes the course of the person’s development. Which causes the characteristics associated to having down syndrome while each person with down syndrome, is not exact some of the common physical traits are: small structure, upward slant of their eyes, and low muscle tone?
Is Down syndrome Common?
The CDC states that approximately one and seven hundred babies in the united states have down syndrome. This makes down syndrome the most common Chromosomal condition. There are about 6,000 babies with down syndrome are born in the united states each year.
The Discovery Of Down syndrome
In the late 19 the-19thcentury an English physician by the name of John Langdon Down published an accurate description of down syndrome-this paper was related to scholar work. And was published in 1866. This earned the doctor the title, “The father” of the condition. Down was the only one to describe this condition as a distinct and separate entity.In 2959, French physician, Je’ro’me Lejeune Identified Down syndrome as a chromosomal condition. Noting that instead of 46 chromosomes there were 47. In the year 2000, a group of scientists successfully identified and catalogued approx. 329 genes on chromosome 21. This open the doors to great strides in research for down syndrome.
The Different types Of Down syndrome
NONDISJUCTION:
Caused by an error in cell division called, “Nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two this is the most common of the 2 forms of down syndrome. About 95% of cases are diagnosed with this form of down syndrome.
MOSAICISM
Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21.
Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome. Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome.
TRANSLOCATION
In translocation, which accounts for about 4% of cases of Down syndrome, the total number of chromosomes in the cells remains 46; however, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome.
For further information on this topic please consult with your trusted medical professional.
Does Down syndrome run in families?
While all 3 types of down syndrome are genetic, only 1% have a heredity component (passed from parent to child through the genes). Of all three translocation is the one to carry the heredity component.
The likely hood of having another child with Down syndrome
It is estimated 1-100 of women up until the age of 40. The risk of TRANSLOCATION happening again is about 3% for the father, and 10-15% for the mother. Genetic testing helps determine the origin of TRANSLOCATION.
There are two ways to diagnosis Down syndrome
Prenatally and at birth. For further information on the depths of these two avens please visit: https://www.ndss.org/about-down-syndrome/down-syndrome/
You can also visit there for further information on this topic, liked their preferred language guides.
April’s Topic For The Abler Blog: Dwarfism Resource: Mayoclinic.org Author Note: I am in no a professional of any kind. I am strongly against self-diagnosis, and encourage my audience to please seek the professional advice of their own trusted medical professional and any other trusted professional depending on the topic at hand. The Abler Blog ONLY PROVIDES LIMITED GENERAL INFORMATION, and ALWAYS CITES WHERE THEY FIND THEIR RESOURCES AND OR INFORMATION. Jessica Niziolek, Founder Of The Abler Blog, and online community. What is dwarfism? It means to be short in stature. Typically the average height for someone with this condition is: four feet, ten inches or less. Because there are several different health conditions that are link to dwarfism so this condition is broken down into 2 catogories. Disproportionate dwarfism. If body size is disproportionate, some parts of the body are small, and others are of average size or above-average size. Disorders causing disproportio
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