DiGeorge syndrome || 22q11. 2 deletion syndrome || Immunodeficiency

DiGeorge syndrome, also known as 22q11. 2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.

[@denisewilson2599]

My 2 year old granddaughter was just diagnosed with this condition. She will have a cardiology scan in a few weeks. She will visit an immunologist shortly after that. She attends occupational, feeding and speech therapy weekly. She is being evaluated by a specialist to see if any additional therapies are needed. She is nonverbal at this point. We are learning sign language. She responds best when you sign the word and speak it at the same time. They tell us she was lucky to be diagnosed so young. Genetic testing during pregnancy should have picked this up and it wasnt. She is, however, one of the happiest, sweetness (and, yes like any 2 year old, stubborn) little girls ever. I say all this to give others hope.

[@animatedbiologywitharpan]

I am so sorry to hear this.

[@meryachchar2704]

Please @ denise wilsone answer to me

[@augustfinn5704]

Merci ❤️ this was indeed helpful

[@JohnAckerman93]

I have a friend that has DiGeorge syndrome. He has no T cells as explained in the video, and he can’t sweat when it’s hot outside. He also can get cold easily, but warms up quickly. He also doesn’t have great calcium levels in his body, so he takes meds to help with that. He goes once a year to a doctor that specializes in this condition. I’m always interested in learning about this condition

[@animatedbiologywitharpan]

Thanks for the description. Yes indeed DiGeorge patients face a lot of difficulties in life . We should help them always

[@Bigbrokevo]

Hmm i have Digeorge Syndrome, but I can sweat.

[@shannongoodman2618]

My son has Complete DiGeorge which is no TCells - there’s then 22q which I have. It’s also called Congential Athymia. But my son sweats like crazy!

[@rudymilla]

amazing video, thank you

[@animatedbiologywitharpan]

Really glad to know it was useful. Please follow my instagram page and facebook page. Please share my youtube channel link with your friends and help me to reach big audiance I'm on facebook & Instagram as @animatedbiologywitharpan. Install the app to download notes and flash cards. instagram.com/invites/contact/?i=1p41h314q3fv8& You can support the channel by clicking on the super like icon below the video ( a heart sign with $ in it ) . You can support using paytm/ phone pe/ gPay / paypal. Your small contribution means a lot for me

[@halaabdulqader5197]

good work

[@animatedbiologywitharpan]

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[@anikdasad9]

Yes dada..I am cleft palate... And feel some sort of immunodeficiency..

[@kfl3187]

What a great video, I think that this video can certainly explain how the deletion afects at the embryonic development and how the deficiency of TBX1 make all these manifestations, I can say that one of the most curious manifestations is the psychiatric one I think there's a lot of investigation to do in this area

[@animatedbiologywitharpan]

Could you please help me by sharing my contents with your friends group/ college group. I put huge efforts in making these videos but unfortunately not a lot of people are watching this.

[@EmilyElizabethxox]

I know of a family with a child with DeGeorge syndrome and it seems very difficult to treat. He has had to endure many surgeries on his heart and he is frequently in and out of hospitals. He now has Covid. Praying for him.

[@kelseyfloyd4622]

I have Dgeorge syndrome I had seizures till I was 20 or 19 I haven't had none in three years my only complecation is speech but I can do other things as normal people can it will not stop them from having a normal life

[@Nihadhawan]

Very clear voice 👍

[@animatedbiologywitharpan]

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[@codywilkerson2841]

I have 22q11 along with velacardiodefacial I'm 33 years have surpassed everyones expectations I'm grateful but it's difficult sometimes

[@animatedbiologywitharpan]

So inspiring, wish you a long life

[@codywilkerson2841]

@@animatedbiologywitharpan thank you you as well

[@joyceelms8597]

💕

[@meryachchar2704]

How did you passed the disease I need the help I have this disease I was born with this syndrome but now is so difficult to stay with people because I’m shaking a lot and I don’t what should do I

[@BiSim90]

Hi! Great presentation thanks! Will you share the resources, please? I am doing an essay on the pathophysiology of the DiGeorge syndrome and read lots of articles, but none of them mentioned what you have and I definitely need to include them! Thank you a lot in advance :)

[@animatedbiologywitharpan]

Please ping me via email. [e-mail]

[@BiSim90]

@@animatedbiologywitharpan Thanks! Have emailed you

[@miahender7991]

What about hypocalcemia in these patients?

[@sudiptajana1854]

Thanks sir..♥️

[@animatedbiologywitharpan]

Please share among friends and help me to reach big audience

[@shivakesht136]

T cell production is from bone marrow but maturation is by thymus

[@Anonymous_dancer-1234]

Thanks

[@animatedbiologywitharpan]

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[@salam7905]

thank you so much ^-^

[@animatedbiologywitharpan]

Please share my channel link with your friends and help me to reach big audience

[@nikitalohkare9060]

can you please make video on chediak higashi syndrome??

[@animatedbiologywitharpan]

Thanks for your comment…I think I have a video on chediak higashi syndrome which would be uploaded soon

[@Hello-nt7so]

My grand daughter was born 26/5/2021 at 33 weeks Perth Australia she hasn't left hospital yet

[@animatedbiologywitharpan]

So sorry to hear that....

[@keishailiahiparker757]

@@animatedbiologywitharpan hi sir , would I still be able to get pregnant and would they be able to replace my missing 22 chromosome to have a healthy pregnancy??

[@shiprakatiyar7604]

@@keishailiahiparker757 have you got answer to this question ? Pls explain to me thanks

[@coagulatedsalts4711]

@@keishailiahiparker757 you can do IVF and have them select eggs that don't have the mutated chromosome! it's expensive though...

[@verena4583]

Bei mir wurde es erst nach meiner 2. fehlgeburt mit 32 jahren festgestellt! Wer hat es noch?

[@user-uw7ms4tt2m]

❤

[@animatedbiologywitharpan]

Could you please help me by sharing my contents with your friends group/ college group. I put huge efforts in making these videos but unfortunately not a lot of people are watching this.

[@lucasIsnotReal]

People with down digeroge can get pregnant?

[@animatedbiologywitharpan]

might have some difficulties with pregnancy

[@lucasIsnotReal]

@@animatedbiologywitharpan is there chances the baby could be born normal

[@shivakesht136]

T cell maturation affected

[@kadriay3750]

çocuğum di george sendromu doğdu geç tehşis konuldu 6 ayliğinda vefat eti eşim yine gebe 2 çocuğum da var test yapmaliyim

[@animatedbiologywitharpan]

Could you please translate that in English, I couldn't understand

[@ebru_yildirim101]

Merhabalar öncelikle başınız sağolsun allah sabır versin çok üzücü, benim oğlumda die george sendromu 1 yaşında sizin bebeginizde ne gbi etkiler vardı merak ediyorum die goergo sendromuyla alakalı çok kapsamlı bilgi yok malesef

[@dmrtuba1070]

@@ebru_yildirim101 ebru hanım benim gebelıgımde bu sendrom teshısı konuldu bebegınız ile ilgili bu sorunu nasıl tespit ettınız çok mu ağır bır hastalıktır. Bana kalbındekı delık büyük olduğu ıcın bulguların ve hastalığın ağır derecede ılerleyecsgı soylenıldı. Hamılelegı sonlandırmak bu çocuklar ıcın doğru karar mıdır? Yoksa doğurmak daha büyük vebal mıdır? Lütfen cevap yazar mısınız

[@ebru_yildirim101]

@@dmrtuba1070 merhabalar oglum doğduktan 1 gün sonra yanımdan aldılar eller ve kollarda morarma olduğu için sonra ağır kalp hastası olduğunu öğrendik 3 sorun vardı kalbinde aort atar damarın yokluğu kesintili olduğunu delik ve kapakcikla ilgili sorunlar hemen ameliyat olması gerektiğini söylendi ayrıca hamileliğimde hiç bir sorun olmadgi söylendi rahat Bir gebelik dönemi geçirmiştim ama maalesef buyuk Bi şok yaşadık başka Bi ile sevk edildi ameliyat oldu doktorlar bu ameliyattan sonra 2.hatta 3 ameliyat gerekebilir dediler ama çok iyi geçtiği için kalbiyle ilgili sorun kalmadı çok şükür.Sonrasinda gen testiyle öğrendik DİE george olduğunu bütün bölümlere takibi devam ediyor bizdeki DİE george sadece kalple kısıtlı kalmış oğlum şimdi 3 buçuk yaşında hiç Bi sorunu yok bende çok merak ediyordum çok araştırdım bu sendromlu alakalı ama çok detaylı Bi bilgi yok yada duyulmuş bisey değil isterseniz mail adresimi yazabilirim detaylı konuşmak için

[@dmrtuba1070]

Ebru hanım maıl adresınızı ya da watsap üzerinden gorusebılır mıyız ? Perşembe gunundoktor karar verıcek hamılelıgı sonlandırıp sonlandırmamak ıcın ılk defa duyduk bu hastalığı bılgı de yok

[@Mrmudbone_gaming]

I thought it wasn’t hereditary?

[@animatedbiologywitharpan]

No it is hereditary

[@animatedbiologywitharpan]

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[@shiprakatiyar7604]

@@animatedbiologywitharpan Is it always hereditary ? If gene deletion is found does it mean someone get it from his/her parents ?

[@cormacmc8874]

@@shiprakatiyar7604 No, it is not always hereditary, as it can occur as what is known as a "de novo" mutation, or to put it another way, it can occur sporadically as a brand new mutation, which is not inherited. I have included a cut and paste from the Medline gov website which explains that the condition is not normally acquired in an inherited manner... "The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children. In about 10 percent of cases, a person with this condition inherits the deletion in chromosome 22 from a parent. " I hope this helps.

[@Cute-apple9885]

I have it

[@animatedbiologywitharpan]

I am so sorry to hear that

[@Cute-apple9885]

@@animatedbiologywitharpan it’s bro 😎 I’m strong and brave

[@tdtm82]

It's DiGeorge's not DiGeorge.

[@animatedbiologywitharpan]

Thanks for your comment . This kind of comments will help me to improvise

[@as680783]

Hi Thomas. Both terms are grammatically correct and may be used interchangeably.

[@marja914]

You did forget to mention that 20% of the children with the 22 deletion syndrome develop psychiatric diseases like schizophrenia and psychosis. For my adult daughter that is the most difficult part of the syndrome.