@drsermedmezher: “Down’s People Look The Same” #wait. Sources- PMID 29250566 ashleyzambelli on TT Down syndrome, or Trisomy 21, occurs when a person has three copies of the 21st chromosome instead of the usual two. In mosaic Down syndrome, which accounts for about 2% of cases, this extra chromosome is only present in a percentage of the person's cells rather than every cell in the body. This occurs through a process called "nondisjunction" that happens shortly after fertilization. As the initial cells divide, some lines of cells maintain the typical 46 chromosomes while others develop 47. Because the body is a "mosaic" of both typical and trisomic cells, the physical and cognitive expression of the syndrome can vary significantly. This biological blend explains why someone with mosaic Down syndrome might have the internal characteristics of the syndrome without the distinctive facial features. The physical appearance of Down syndrome, such as the epicanthic folds of the eyes or a flattened nasal bridge, is determined by how the extra 21st chromosome affects early craniofacial development. If the cells responsible for forming the face happen to be primarily from the typical cell line, those specific features may not develop. However, the person may still experience other aspects of the syndrome, such as heart conditions or cognitive differences, if the trisomic cells are more prevalent in the organs or the brain. #downs #genetics #interesting

user5765216786941 :

This is so crazy because I have mosaic turner syndrome and it’s the exact same situation. I look nothing like girls with classic turners. My height was the only thing that was really effected

TheBearded_Potato :

Demi 🍒 :

I’m pregnant with my 2nd baby. I’m only 18. My little girl I’m carrying has been diagnosed with Down syndrome. It’s so crazy because normally they say this happens in older women, so it’s shocked everyone that this has happened to me.

saya | vet student 🐾 :

As a vet student I’m so fascinated by this thanks for sharing!

Wolfie :

x.x.j85 :

I didn’t know this

Em feat. Mister & Mimi (cats) :

I think I have it. They suspected it when I was born. I had all the developmental issues as a baby but they never confirmed it.

🦅ate✌️ :

the video right under this

⭐️🎱🐆Vada🐆🎱⭐️ :

my cousin has 1/14th of an extra chromosome and he was like heavily autistic, then he got sent to military school and came back like a HELLA different person

sweatychocolatetruffles :

a person with down syndrome is considered a lucky charm and a blessing to a family in my culture. i wish people would be kinder and more open to them 🥺

shrshr 🧚‍♀️ :

this was so helpful thank you for educating me!!

debora :

i kinda have the same but it’s turner syndrome

fullgradesontheturingtest :

not only the mosaicism that you described can be the reason for an obvious phenotype. It can also be that only parts of the chromosome are tripled, can it not?

HayGraye :

HER VIDEO IS LITERALLY ABOVE MINE 😭😭

yasss :

A

lucas 😎 :

the original video was the one before this

lianharper :

God bless Jesus loves yall

xaylahbeautyhouse :

M

🩻 :

i think i could have it i don’t really know what to do tio

Lainey :

This happens with Turner’s syndrome as well since it can also be mosaic! Some of us have more physical features of it than others

c0mm0ngh0st :

How is it diagnosed in this case

Alice ♿ 🏳️‍⚧️ :

my first thought was is it mosaic? though I don't know enough to know the full variations

Ess_Starry :

ooh I didn't know that

no. :

using the word "normal" like that causes othering. a term like usually would be more appropriate

Janakabana27 :

My son has T21 so I’m part of quite a few groups and I know a woman who only found out she has Mosaics DS after her first two kids were born with T21. If she never had kids she might have never known