Monday 27 August 2012

Signs, Symptoms and Different Types


It's been a couple of weeks since I last posted so I've decided to post two topics. These two being signs and symptoms and the different types of Down Syndrome. 

Signs and Symptoms
Symptoms of Down Syndrome are both physical, intellectual and medical. Typically people with Down Syndrome have slower mental and physical development. The picture below shows features that people with Downs most commonly have.

People with Downs also suffer from various medical conditions that decrease their quality and span of life. These conditions include:
  • Congenital heart disease
  • Hearing problems
  • Intestinal problems
  • Celiac disease
  • Eye problems
  • Thyroid dysfunctions
  • Skeletal problems
  • Dementia


Different Types of Down Syndrome
Type 1 - Trisomy 21 (previously explained in my blog) this accounts for 90% - 95% of all cases
Type 2 - Translocation occurs when a part of chromosome 21 detaches and attaches itself to another chromosome, having the same affect as having 47 chromosomes. This accounts for 3% - 5% of cases.
Type 3 - Mosaicism occurs during fertilisation when a) the person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split creating a cell with 47 chromosomes b) the person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. These occur in 2% to 5% of cases. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.

Dayna.

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