Quoting Heather[AJB]+1 DIVA:" Isabels deletion was a random occurence. Her daddy and I were tested and had no disorders. So they told ... [snip!] ... was not at first. She experiences hypotonia.. She barely can hold her head up now. She is also starting physical therapy early."
Yeah if it's just one of the chromosomes in the pair that have a deletion or micro deletion and they don't end up having babies with someone missing a piece of the same chromosome pair then her children have a 50/50 chance of receiving the bad chromosome
. I hate it for Isabela because that would be so hard for her to go through just as it's hard for you and your SO or DH and I know it's hard on little Isabela. I'm so glad you and her father don't have it, it's something that you probably would have known about with its severity though, huh? I hate that about the hypotonia, my oldest has low muscle tone as well it can be part of her micro deletion so that had to have played a part in delaying her crawling and walking. The PT she had that helped her learn to crawl believed she had low muscle tone in her hips and ankles, she was the one to refer her to a prosthetic and Orthotic place here in town to get the braces.