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Using Genomics

Living with a genetic disorder

Don't be shy ... Say hi!

What Is Down Syndrome?

Melanie Manion has Down syndrome, which means that she has 47 chromosomes in each cell instead of 46. In Down syndrome, three, rather than the normal two, chromosomes 21 are present in each cell. An abnormal number of chromosomes is the result of "nondisjunction": paired copies of a particular chromosome fail to separate at cell division, and so two copies of a chromosome are placed in a sperm or egg, rather than one. If fertilized, this sperm or egg will produce an embryo with an extra copy of the chromosome in each cell.

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1) Photo: Down syndrome karyotype.A karyotype is a display of the chromosomes within a single cell. The chromosomes are stained with dyes to accentuate differences between them. In this Down syndrome karyotype, the chromosomes have been arranged in their pairs. Note the extra copy of chromosome 21.

Down syndrome is a chromosomal disorder that occurs in approximately 1 in 700 births in Canada. The likelihood of having a baby with Down syndrome increases significantly with age. For example, between 20 and 24 years of age, the chance of conceiving a child with Down syndrome is 1 in 1450, while at age 45, this probability increases to 1 in 32. Statistics show that 80 per cent of babies with Down syndrome are born to mothers under the age of 35 years, as these are the prime child-bearing years. It is important to emphasize that nothing a mother does or does not do during pregnancy could cause Down syndrome.

Living with Down Syndrome

"I hate wearing glasses. I don't like having to see so many doctors or having operations. I don't like it when people stare at me: it makes me feel strange." Melanie Manion

2) Photo: Melanie’s Grade 8 graduation.People with Down syndrome face certain health challenges. From a very young age, Melanie has had to make numerous visits to doctors. She suffers from hypothyroidism, which means that her thyroid gland does not produce enough hormones, and this can lead to fatigue, weakness and weight problems. A blood test has to be carried out annually to monitor her hormone levels. Other health complications related to Down syndrome are congenital heart malformations, hearing loss and vision problems. Melanie, for example, was fitted with her first pair of glasses at the age of nine months.

"People with Down syndrome can do a lot of things, almost everything that other people can do. We learn more slowly, but we can learn." Melanie Manion

 

Down Syndrome

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In terms of learning, people with Down syndrome have intellectual delays that vary from one individual to the next, and so they all learn in a different fashion. When Melanie was born, several people told her parents that she may never learn to read or write but, today, she loves to do both. Melanie's parents have been heavily involved in her education since her early childhood. 3) Photo: Melanie and her family.They enrolled her in infant stimulation classes and, later, insisted that she be integrated into a mainstream school, in the belief that contact with children of her own age would benefit her. Melanie is now in high school. She has a boyfriend and would eventually like to get married.

 

"My family has always included me in all their activities and I try to do all the things that people my age usually do. But the most important thing I can do is just be myself and show everyone what I can do, even though I am a person with Down syndrome... And remember, the next time you see a person with Down syndrome, don't be shy... say hi!" Melanie Manion

 
   

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Last Update: 2003-10-17  © nature.ca    Important Notices
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Image credits: 1) Cytogenetics Laboratory, Childrens Hospital of Eastern Ontario; 2) Melanie Manion and her family; 3) Melanie Manion and her family.