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.

[denisewilson]

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.

[EmilyASMRchannel]

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.

[JohnAckerman]

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

[kfl]

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

[codywilkerson]

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

[zuhalsals]

Merhaba benimde 8 yaşında di george sendromlu kızım var . Bizde tek kalp değil. Dizleri, kas kemik zayıflıgı buna baglı ameliyat oldu. Zeka geriligi, 4 yaşına kadar gelişememe şimdide obezite ve bir sürü şey daha. Hastanelerden çıkmıyoruz. Umarım bu yazıyı okuyup yardımcı olucak birileri çıkar.

[shivakesht]

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

[anikdasad]

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

[miahender]

What about hypocalcemia in these patients?

[TruthPrevailsAlways-]

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 :)

[santiagolazaro]

Hello quick question
Is there a way to find out what effects will the baby have before he is born?

[kadriay]

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

[marja]

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.

[nikitalohkare]

can you please make video on chediak higashi syndrome??

[Hello-ntso]

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

[verena]

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

[IvrRBLX]

People with down digeroge can get pregnant?

[LanaeLowe-jq]

Low Risk" result for 22q11.2 Deletion Syndrome indicates that the individual tested does not have this condition. This means that the screening or testing procedure did not identify the presence of the specific chromosomal deletion associated with 22q11.2 Deletion Syndrome.

[tdtm]

It's DiGeorge's not DiGeorge.