Question for Mia's mom nne - UPD7

[Guest guest]

nne -

Have you and your husband and Mia been tested for UPD7? The reason

I ask is that I just looked at the photos of Mia, and to be honest,

she does not appear to have the stereotypical face that most of the

RSS children have. Although photos can often be distorting!!!

However, about 10% of the RSS children test positive for UPD7, this

is where both of the child's chromosome 7s came from mom instead of

one from mom and one from dad. Children who are UPD7 (also called

matUPD7) have a tendency to have a face slightly more different than

the rest of the RSS gang. (Several studies have reported this.)

They still have the large bossed foreheads, etc. but their faces are

not really triangular shaped, they are more boxey looking, and when

I looked at Mia's photo, her forehead and eyes and ears look common

(her ears look posteriorly rotated, are they?) but her face (the

bottom of her face, from eyes down) instead of being a triangle is

more squarish, reminding me of those children who are matUPD7.

Clearly she is SGA, based on her her birth weight being under 5lbs 5

oz and 17.5 inches corrected for gestational age. And the fact is

that the problems and treatment are the same for RSS and SGA.

Let me know about the UPD7. It doesn't rule out RSS or diagnose RSS

for any child, but for those kids who are on the fence, and have

that certain look, when they are matUPD7, it is like " oh, OK, that

explains it.... "

S.

> First of all I would like to thank you all for welcoming me to the

> group! I feel blessed that I came across this group. It is so

nice

> to read about people with the same issues that I am dealing with.

My

> daughter is Mia and we live in Tampa, Florida.

>

> I posted 2 photos of her on the photo page. Mia hasn't been

> diagnosed yet but as I said in an earlier email, she has many

> characteristics.

>

> Mia was almost 18 pounds at her last check up. I finally

purchased a

> big carseat (her legs are finally starting to hang over in her

infant

> seat). I still have it facing backwards. I am anxious to turn her

> around when she makes it to 20 pounds. I don't know how long that

> will be. I feel like she will be 3 and still facing backwards! I

> don't want to turn it around when it is unsafe. Does anyone else

> have this problem?

>

> Thanks for the referrals to MAGIC too! nne