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nickwitha_k@lemmy.sdf.org ⁨8⁩ ⁨months⁩ ago

Yes. These are micrographs of chromosomes. Humans, along with nearly all complex animals, are diploid, meaning that our chromosomes occur in matched pairs (one from each parent). Humans should generally have 23 chromosome pairs. Having more or fewer than 46 total chromosomes is called aneuploidy.

Aneuploidy can occur in two main variants: monosomy (having only half of a chromosome pair) and polysomy (having three or more copies of a chromosome, instead of two). Because of how gene expression works, aneuploidy will fuck you up pretty bad. Basically, our bodies and the systems that make them up need a pretty strict balance of protein manufacture, which requires two copies (there are other factors like gene inactivation, etc but, they’re unnecessary for this).

This is so delicate that all monosomies in humans are fatal, except for and monsomy X/Y. All viable babies with monosomy X/Y are female and affected by Turner syndrome which causes significant physiological problems including heart and reproductive system abnormalities (sorry guys, our Y, by itself is incompatible with life). There are also 3 partial monosomies that are survivable: Cri du Chat (partial deletion of chromosome 5; causes physical and mental disabilities), 1p36 deletion syndrome (partial deletion of chromosome 1; causes physical and mental disabilities as well as seizures and/or epilepsy in ~50%), 17q12 microdeletion syndrome (deletion of HNF1B gene on chromosome 17; causes physical and mental disabilities as well as type 5 diabetes).

Polysomy is a bit more forgiving but still pretty rough. Polysomies of X and Y are common, relative to other polysomies, and generally result in physical and mental abnormalities. Polysomy 7 is linked with squamous cell carcinoma (cancer). Trisomy (three copies) 8 is linked with acute myeloid leukemia with tetrasomy and hexasomy 8 being linked with more severe disease. Trisomy 21 causes Down syndrome.

TL;DR: in the image, their Loss appears to be either a partial monosomy of chromosome 4 and possibly chromosomes 5-X/Y. They’re pretty much boned.

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