Day 29 – Down Syndrome Awareness Month

Day #29

There are 3 types of Down syndrome. Trisomy 21, Translocation and Mosaicism.  Trisomy 21, the most common form, is when a 3rd copy of the 21st chromosome is present in every cell of the body. Translocation, the most rare form, occurs when a piece of the 21st chromosome breaks off during cell division and attaches to another chromosome. Finally, Mosaicism, occurs when there is a mixture of cells in the body. Some have 46 chromosomes, some have 47. The ones that have 47 contain an extra 21st chromosome.

Willow has Trisomy 21.

Shortly after she was born a test was performed to confirm that. They call it a chromosomal karyotype. The test basically gives us a glimpse inside Willow’s cells. On paper, the results looked like a bunch of socks. There were 23 pairs, but one pair stood out. The 21st pair. It had an extra sock next to it.

Down-syndrome-karyotype-labelled
http://www.rapid.nhs.uk/guides-to-nipd-nipt/nipt-for-down-syndrome/

Every cell in Willow’s body has 47 socks, I mean chromosomes. While Down syndrome is found throughout her entire body, it is just a part of her. Willow is not Down syndrome. She just happens to have it. Just like she happens to have a face so cute it pains me!

IMG_20181028_123248074

 

 

 

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2 thoughts on “Day 29 – Down Syndrome Awareness Month

  1. So, out of curiousity, which form of Downs would allow a child to grow to over 6 ft with pretty good muscle control/development? I had a student when I first taught who was tall, fairly thin, and a good athlete. But he definitely had the facial characteristics of someone with Downs. Greg was a sweet kid and I loved him as a student but he was so different from the other students I had with Downs that it was hard to think of him as having Downs.

    I did this twice so I was sure you would get it and help me understand the various kinds of Downs Syndrome.

    1. Honestly, I can’t answer that question, as every child with Down syndrome is different! The type of Down syndrome that person has doesn’t necessarily determine cognitive ability or physical features. The boy your referring to could have just had tall parents, making him tall. Also, some kids (no matter the type of Ds) don’t struggle as much with hypotonia, ie low muscle tone. Wish I could help you, but an extra 21st chromosome affects every child differently, no matter the type of Ds.

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