Swallow Function Study

Studies conducted years ago on PTLS kids showed that the duplication could cause hypersensitive nerves in the back of the throat, a problem with tongue movement (interfering with clear speech and brings about very noisy “smacking” while eating), clearing of the throat, and gagging. It is suggested that if the children are showing difficulties, they have a “Swallow Function Study” conducted to look at the structures and any possible delays in swallowing of food and liquids. This test is conducted by a Speech Pathologist in an x-ray department. If you have any questions about this, please consult the PTLS individual’s physician.

 swallow function pic

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Making a Wonderful PTLS “Cake”

The Making Of Our “Cake” Called the PTLS Child

By: Julie Smith-Centeno

The Making of a “Typical” Cake

Ingredients:

2 eggs

2 tsp. baking powder

6 oz. flour

6 oz. sugar

2 tb. butter

4 tb. oil

Put all the ingredients together, pour into a 9×9 baking pan, put it in the oven at 350 for 30 min. Enjoy!

 

The Making of “The Wonderful PTLS Child Cake”

Ingredients: Mom and dad needs to bring equal amounts (half) of each ingredient. Each ingredient is called a “gene”. The list of ingredients is called chromosome 17. Can you see the duplicated ingredient “gene”? ( Please note that for your child the duplication could have come from mom or dad.)

  Mom                                          Dad                                            Total Ingredients Needed

1 egg                                        2 egg                                         3 egg genes (we only needed 2 eggs)

1 tsp baking powder           1 tsp baking powder             2 tsp. baking powder gene

3 oz. flour                              3 oz. flour                                6 oz. flour gene

3 oz. sugar                            3 oz. sugar                               6 oz. sugar gene

1 tb. butter                            1 tb. butter                                2 tb. butter gene

2 tb. oil                                 2 tb. oil                                      4 tb. oil  gene

Put all the ingredients (genes) together, pour them into a uterus, and bake for 9 months. Enjoy this amazing cake!


Duplication 17p11.2 is not a duplication of the whole chromosome (which would be duplicating each ingredient on the list, which is what happens with Down’s Syndrome). When we bake all these ingredients together, we may not have put in the right number of ingredients (genes), but it still makes one amazing cake that we are so very proud of and with every single bite we are in awe of it. Enjoy Your Cake!!!  ~Julie Smith-Centeno

Simplifying the duplication of the p11.2 on chromosome 17.

Simplifying the duplication of the p11.2 on chromosome 17.