- Joined
- Feb 20, 2021
A somewhat stupid idea. Two dwarf individuals have a 1/4th chance of producing an embryo with two copies of the gene, which leads to extreme shortening of the limbs and restricted ribcage (aka thanatophoric, tho I believe it depends on the mutations involved for the severity to be that bad).
Most of that quarter will be stillborn, so you're playing with reduced odds which is also stupid for parents to be. I mean, tis what genetic counseling is for so it's up to them if they want to play the odds.
Yeah isn't that what Paisley has?
I'd imagine most couples w/dwarfism, like most people, would abort if they found out the fetus had thanatophoric dwarfism or any other fatal condition. Unfortunately it just got a lot harder for them to do so in much of the US![]()
It's not that they gain thanatrophic dwarfism its that they get "double dominat dwarfism" which means they get the genes for both their parents dwarfism. This USUALLY ends in a miscarriage because its not viable with life.
Achondroplasia, the most common skeletal dysplasia, is caused by a mutation in a gene called FGFR3, which I sperged about here previously. A different mutation in the same gene also causes thanatophoric dysplasia.Yeah, I didn't think it was true thanatophoric dwarfism (as the cases we see are recessive or sporadic), but it presents similarly.
I'm generally fine if people pass on disabilities if they're not all that bad like blindness, deafness, being a midget. Whatever, long as you can have a good life.
Achondroplasia is inherited in an autosomal dominant manner, which means it just takes one mutated copy of FGFR3 to cause characteristic features of the disorder. The offspring of two parents with achondroplasia has a 50% chance of having (heterozygous) achondroplasia, a 25% chance of having two normal FGFR3 genes, and a 25% chance of having two mutated FGFR3 genes. Inheriting two mutated copies of the gene results in a condition called homozygous achondroplasia. Most people with achondroplasia (80%) are born to two normal height parents, though.
(To clarify, homozygous achondroplasia and thanatophoric dysplasia are both lethal skeletal dysplasias caused by a mutation in the FGFR3 gene, but they aren't the same disorder because the specific causative mutation differs.)