Believe what the child has is Patau Syndrome.
I think it could be
trisomy 18, also known as Edwards syndrome. It doesn't look like trisomy 13 to me.
The hands are a dead giveaway. Babies with trisomy 18 have very distinctive hands, which are clenched with the second (index) finger overlapping the third and the fifth (pinky) finger overlapping the fourth. Trisomy 18 also causes various other anatomical abnormalities, including a small and recessed mandible (micrognathia), small "whistling" mouth, severe microcephaly, low set and malrotated ears, and "
rocker bottom" feet, or congenital vertical talus, in which the sole of the foot looks convex due to abnormal contracture of the ankle combined with a misshapen calcaneus (heel bone). It also results in significant neuroanatomical abnormalities.
Trisomy 18, along with trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome) are the most common human trisomies. Unlike T21, trisomies 13 and 18 are considered incompatible with life, with most affected fetuses dying before or very shortly after birth.
The baby is about 10 months old now, if it was Trisomy 13/Patau wouldn’t she be more deteriorated? No sign of cleft lip at birth.
Yes, you're correct. I suspect that this kid might have a mosaic trisomy, in which the extra chromosome is in some or most cells of the body, but not all of them. This can result in attenuated symptoms and longer survival. Unfortunately, there's no way to predict which cells will get the extra chromosome, so there's also no way of predicting which organ systems will be affected. Most, if not all, longer-term survivors of these "incompatible with life"
aneuploidies are actually mosaic cases.
Also, not every individual with a given syndrome will display every characteristic. It's part of what makes diagnosing some of these rare disorders so tricky. Genetic diagnosis is very complicated because you sort of have to have an idea what you're looking for before you perform the test.
More on this later.
Stetson's mother posted a new update:
Jesus Christ. Let this poor kid die already. It is so incredibly cruel to allow another human being to suffer like these children do when it is possible to stop choosing invasive, heroic measures. Stetson and kids like him are completely powerless, even more than healthy children. His mother is actively choosing to do this to him and it's the worst kind of selfishness.
She looks like Vin Diesel to me.
Going to read up on some more of those inbred Egyptians. Shits fascinating so thank you for bring them up.
I also recommend looking up Saudi case reports. They are another highly consanguineous population. A PubMed search for "consanguineous" and "Saudi" might be interesting to you.