Quote:
Originally Posted by AKA_Monet
PWS does not go undetected, then show up on tests later. It is usually seen in children at young as 6 months when two-way peristalsis is formalized.
I think PWS is a chromosomal rearrangement similar to that of Down's Syndrome, Philadelphia Chromosome and the Fragile X. Which means the genetic counselors give the final diagnosis at karyotype.
If the physicians suspected child abuse, they are mandated by law to report it. Since there segments about this kid, and the parents were not jailed, then who knows? Maybe there is a social worker involved?
Depending on where this child lives and what physicians she is seeing, if it is not a University Teaching Hospital, then I doubt she is getting the best care until recently. Media attention tends to bring out the lookie-loos. And physicians are rather vain...
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PWS is a genetic imprinting disease of the 15th chromosome. Inheriting a 15th chromosome with a deletion in a certain area from the father or both chromosomes from the mother causes PWS. Angelman's is the reverse of PWS (deleted chromosome from mother or both chromosomes from the father). It is a disease that has some pretty obvious characteristics that are caught quite early on in development.
So if this was PWS it would have been caught much earlier.
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