Could my twin daughters have mosaic Down syndrome?

Stephanie - posted on 07/30/2015 ( 4 moms have responded )

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Hello everyone!
My beautiful fraternal twin daughters turned 3 on July 29th. My pregnancy was pretty normal, and I actually made it to 38 weeks! My daughter Khloe (baby A) weighed 6lbs. 10oz, and my daughter Kara (baby B) weighed 6lbs. even. For the first few months, everything seemed to be fine, they rolled over on time and they could lift their heads off the ground, but we noticed that they began to fall behind when it came to hitting their developmental milestones. They didn't sit on their own until after their first birthday, the didn't start crawling until they were almost 18 mos., and they didn't walk on their own until they were 27 mos. They went back and forth on who hit the milestone first, but the other would follow within a week.
At 11 mos., we were really concerned with Khloe and some of the signs that she had that could indicate Down syndrome, although they were subtle. She was a "floppy baby" and you could see that she had very low muscle tone. She would also stick her tongue out a lot and she was extremely flexible. After talking to her pediatrician, he ordered a Peripheral Blood Chromosome on her. However, the test came back negative for Down syndrome and showed 46,XY.
I've read that the routine Peripheral Blood Chromosome he ordered can come back negative even if the child has mDs, and I keep noticing more signs in both of my daughters. Khloe still has the low muscle tone and extreme flexibility. She also has what appears to be a larger gap between her first and second toe and her ankles and knees appear to be pointing inward. Kara also has low muscle tone (although it is less noticeable than Khloe), which was actually pointed out to us by the occupational therapist at the school. Both girls are on the short side, Khloe is in the 5th percentile, and Kara is in the 3rd percentile (Kara has more of "stockier build than Khloe too). I've also noticed white spots around the outside of their irises (Brushfield spots?). I thought that maybe they were just part of the coloring of their eyes, but my husband, our two sons, and I don't have them and we all have blue eyes.
They are starting preschool this school year. As part of the evaluation, they met with the school's speech therapist and occupational therapist. Both of whom recommended taking them to a developmental pediatrician and gave us the name of one. Unfortunately, the soonest she could get us in is October (maybe in August if they have a cancellation).
I know this post is long, and I apologize for that. I am just really concerned and I wanted to get all of the facts out there. I am driving myself crazy about this and I'm wondering if I have valid concerns or if I'm just being a overly worried mother. Should I bring this up to the developmental pediatrician, or just wait to see what she has to say?
Any input would be very much appreciated!
Thank you,
Stephanie

Sorry, I had to add that the doctor has noted that they have delayed development and we have been working with Help Me Grow for almost two years. The preschool evaluation was done through them to see if the girls qualified for IDEA. They do.

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Sarah - posted on 07/30/2015

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I think to truly rule in Mosaic Down's, more cells than just blood cells need to be tested, because not every type of cell will have the extra chromosome. Does that make sense? The skin cell may but the bone marrow may not, i an pretty sure that's how it gets diagnosed.

Sarah - posted on 07/30/2015

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Definitely bring up every single concern you have to the pediatrician. The more information you share the better evaluation can be done. Have you talked to a geneticist? That would be my next step; to talk to a doctor that sees chromosomal abnormalities all the time and know what to look for and what to dismiss. Since the girls are fraternal, it would surprise me if they both had Down's, that's like having a brother and sister both with the same issue.

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Pearle - posted on 09/26/2016

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Any updates? I know this post is old but I'm trying to do some research. Any information will help.

Stephanie - posted on 07/30/2015

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When we went to get the referral for the developmental pediatrician from the girls' regular pediatrician, he mentioned maybe taking them to a genetic specialist. He told us that we should probably wait to see what the developmental pediatrician says and what test she does first. That's the only reason we haven't seen one yet.

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