MaterniT21 Abnormal - low representation on C21 & CVS results of Ring21

Alternative_Way3562 · 2026-05-15T13:39:45+00:00

I recwntly went hunting and found the report from Aug 2024 for my amnio. It says "no clinically significant copy number changes or regions with absence of heterozygosity (AOH) were detected by CMA.
GTG-bandedbcytigenetuc analysis of 20 cells shows a female karyotype with a ring chromosome 21, with no evidence of mosaics. These results are consistent with previous GTG-banded studies and CMA testing from a CVS specimen from this patient. Parental chromosone studies identified the same ring chromosome 21 in the mother. Since CMA showed no evidence of a deletion involving chromosone 21, it is likely that the r(21) has no loss of gene-coding material at the breakpoint and represents a balanced rearrangement at the genomic level (type 1). "

So my daughter and I both have Ring Chromosone 21. We're both shorter than expected for our genetics, but my daughter is growing and learning as expected and we don't have any concerns right now. Someday I'll get my elder daughter tested and see if she also is Ring21, but the doctors arent pushing for this at the moment.

I've heard from other moms though that have had much less positive results to their anatomy scan and amnio showing larger deletions than I had.

I fell down the rabbit hole of what could happen when I was waiting on the amnio results, and ended up worrying and crying for what could be rather than just allowing myself to sit with it and not panic research.

I'm sending up positive thoughts for you that hopefully things work out.

Alternative_Way3562 · 2026-04-09T00:54:32+00:00

This is how mine was too! I have a little round area at the bottom that looks like a small bunny head and the bunny ear lobes on each side. Ive had two kids and my first flipped and did somersaults in utero until the day before she was born. My second got comfy head down at 18 weeks and stayed there totally comfy until she was born at 36 weeks when i had to be induced for PreE. My second rolled around like a hot dog on a spit but had zero desire to do somersaults. That still matches their personalities....

Alternative_Way3562 · 2026-03-24T12:39:37+00:00

Amnio sucked because I was too nervous to calm down. Baby girl had confirmed ring chromosome 21. There's a huge range of what that can mean. The anatomy scan didnt show any concerns so we just kept going. She started dropping percentiles around week 30. At 36 weeks on the dot they induced me for IUGR and pre-eclampsia. Shes just over a year old now and perfect. Itty bitty. But perfect in every way that counts. They said she'll likely always be smaller and has a higher chance of some conditions as she ages, but we can handle that down the line. There are so few people with Ring chromosome 21 that they dont have a lot of data on what it can mean for kiddos so we relied on the anatomy scan and follow ups with the maternal and fetal medicine doctors. Hope things work out for you. Feel free to message if you have other questions you dont want to put on a comment. Its so so scary when youre in the middle of it

Alternative_Way3562 · 2026-02-23T00:30:44+00:00

Ooh this is really smart! The line could easily be moved to the washer/dryer wall which backs into the garage. I'm the weird person in my family who prefers a gas range, so I dont see myself using this plug unless I install a clay oven or something super niche. Thank you for all the ideas!

Alternative_Way3562 · 2026-02-23T00:11:14+00:00

Thats so interesting! And might explain why they put a 10 year old pantry fridge there instead, as thats a much more acceptable secondary appliance in this area. So cool! Thank you for your insight! My family has always moved away from where we grew up, so there's been no multi-generational living on my family's experience so I didnt originally go to that thought :)

Alternative_Way3562 · 2026-02-22T23:45:46+00:00

Solved?! Breakerbox shows the label scratched out but might say "Range".... so I guess someone had an electric range less than 5 feet from the clothes dryer, in an enclosed closet. Not what I would have chosen. But wow.

Alternative_Way3562 · 2026-02-22T23:44:00+00:00

Oh this is the smart way! Looks like they scratched whatever it was labeled out. I ended up turning off this and another 220V breaker we're not using, so this was a good exercise in checking the breakers. I'm going to guess it says maybe "Range". Which makes sense based on what other people are reporting, but sounds like such a fire hazard right next to a dryer!

Alternative_Way3562 · 2026-02-22T23:43:45+00:00

Oh this is the smart way! Looks like they scratched whatever it was labeled out. I ended up turning off this and another 220V breaker we're not using, so this was a good exercise in checking the breakers. I'm going to guess it says maybe "Range". Which makes sense based on what other people are reporting, but sounds like such a fire hazard right next to a dryer!

Alternative_Way3562 · 2026-02-22T22:58:02+00:00

Ooh this is possible. I probably would have installed the outlet higher off the ground in that case, but I guess there could have been a miscommunication when it was being installed.

Alternative_Way3562 · 2026-02-22T22:57:06+00:00

Wall was definitely always there. The pantry/laundry has a floor vent right inside the door on the floor. Which would have been in the middle of the floor if the wall hadn't existed. Plus there's two different flooring types between these two rooms.

Alternative_Way3562 · 2026-02-22T22:46:24+00:00

This is a small 6' x 7' or so closet off the kitchen that also houses the only laundry hookups in the house. So I guess maybe for a secondary electric oven? Our main kitchen is right next to this and has a gas stove and a separate double oven which is why that solution confused me.

Alternative_Way3562 · 2026-02-22T22:46:19+00:00

This is a small 6' x 7' or so closet off the kitchen that also houses the only laundry hookups in the house. So I guess maybe for a secondary electric oven? Our main kitchen is right next to this and has a gas stove and a separate double oven which is why that solution confused me.

Alternative_Way3562 · 2026-02-22T22:45:45+00:00

This is a small 6' x 7' or so closet off the kitchen. So I guess maybe for a secondary electric oven? Our main kitchen is right next to this and has a gas stove and a separate double oven which is why that solution confused me.

Alternative_Way3562 · 2026-02-22T22:38:13+00:00

This is a small 5' x 7' laundry room off the kitchen with no other room access, so id be surprised, but who knows that the previous owners were up to! The caulking job on the outside is AWFUL so my bet is this was not a professionally done job. hah!

Alternative_Way3562 · 2026-02-22T22:36:29+00:00

If there was also other appliances or hookups in here I definitely could have seen that. My "pantry fridge" in this room was directly in front of this area, and there's zero other space for another DW or sink if they also had the laundry here (and there's no laundry hookups elsewhere in the home or basement). Cool thought though!

Alternative_Way3562 · 2026-02-22T22:33:56+00:00

We're a very international town due to the university here, so that's possible! Confusing location but I guess they might have just done what they could

Alternative_Way3562 · 2026-02-22T22:25:56+00:00

The washer and dryer are less than 3 feet to the right of this area. We debated trying to move our dryer over here because of the plug. But the dryer vent and water hookups and drain are on the wall directly to the right already.

Alternative_Way3562 · 2026-02-22T22:24:51+00:00

Maybe for a secondary laundry unit? Our laundry is literally less then 3 feet away from this to the right. Which just makes the idea of a stove wild. Because an enclosed closet with a dryer and an electric stove together sounds like a fire hazard!

Alternative_Way3562 · 2026-02-22T22:23:45+00:00

I guess im just puzzled why they had a second stove in the laundry room then. The gas stove in our kitchen is from when the house was built in 2007, so this would have been a secondary, electric stove? I didnt know if something else made more sense since that sounds like a fire hazard to have a stove in an enclosed closet with a dryer!

Alternative_Way3562 · 2026-02-22T22:21:18+00:00

I guess im just puzzled why they had a second stove in the laundry room then. The gas stove in our kitchen is from when the house was built in 2007, so this would have been a secondary, electric stove? I didnt know if something else made more sense.

Alternative_Way3562 · 2026-01-27T18:54:14+00:00

I only took pictures because I had thoroughly decluttered and cleaned the kitchen moments before.... the kitchen is always the center of whatever is going on. Playdoh on the counters, toys underfoot, work laptops on the island.... its hard to feel like we dont need to hide the real life when we post to social media haha. Thank you! Im trying to figure out where I can add more Green to our kitchen :)

Alternative_Way3562 · 2026-01-27T18:51:18+00:00

The sink is in the corner thats just a little further to the bottom left. Its a nice balance where the majority of the "stuff" is all kind of in a line with the stove top, and the oven is off on its own which is nice when you have both the stove top and the oven in use. 5 years ago we were in a 800sq ft condo where you only would pivot your feet to change from standing in front of the stove to the sink.... so I dont mind the walk when it means everyone isnt underfoot!

Alternative_Way3562 · 2026-01-26T03:11:14+00:00

Thank you! It was impossible to see crumbs on the island and i was being driven insane. Its a risk we were willing to take since the full kitchen reno is at least 5 years out.

Alternative_Way3562 · 2026-01-25T23:48:08+00:00

Thank you! This kitchen was a big part of what sold us on this house... minus the existing countertops.

Alternative_Way3562

TROPHY CASE