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PediaCast: Pediatric Podcasts for Parents

22q11.2 Deletion Syndrome - PediaCast 568

PediaCast: Pediatric Podcasts for Parents

Dr Mike

Pediatrician, Hospital, Immunization, Pediatric, Illness, Doctor, Family, Health, Science & Medicine, Pediatrics, Kids & Family, Parents, Kid, Children, Kids, Parent, Vaccine, Child, Wellness

4.8598 Ratings

🗓️ 24 September 2024

⏱️ 56 minutes

🧾️ Download transcript

Summary

Dr Richard Kirschner, Dr Adriane Baylis, and Chaitali Amin visit the studio as we explore the 22q11.2 Deletion Syndrome. We discuss this genetic condition’s cause, features, diagnosis, management, and long-term outlook. We hope you can join us!

Transcript

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0:00.0

This episode of PDACast is brought to you by the 22Q Center at Nationwide Children's Hospital. Hello, everybody and welcome once again to PDACast.

0:40.0

It is a pediatric podcast for moms and dads.

0:43.0

This is Dr. Mike coming to you from the campus of Nationwide Children's Hospital.

0:47.7

We're in Columbus, Ohio.

0:49.3

It's episode 568.

0:51.3

We're calling this one the 22Q11.1.2 deletion syndrome. I want to welcome all of you to the program.

0:58.7

Today we're going to explore a genetic condition known as the 22Q-11.1.2 deletion syndrome. It goes by 22Q, for short.

1:07.7

And it also has some other names, particularly ones that were used historically when we

1:12.2

really didn't know what caused 22Q. We know now that it's a genetic condition. It involves the 22nd

1:19.3

chromosome and a particular section of the chromosome, which is missing, and that's why it's

1:25.0

called the 22Q11.1.2 deletion syndrome. Before we knew that

1:30.5

that was the cause, you know, a lot of these genetic syndromes, before we knew what caused them,

1:35.4

all we could do is say, well, these particular signs and symptoms always seem to go together,

1:40.5

and then call that a syndrome, even though we didn't know back then exactly what caused that

1:45.4

syndrome. And so the initial name was George syndrome, named after the physician who first

1:51.6

described these symptoms all going together. And then it started to be called the Velo-Cardiofacial

1:57.9

syndrome as we thought about the particular body systems that were most commonly

2:03.0

involved. So it had that name for a while. But as we discovered the real cause of this syndrome,

2:09.1

then the name 22Q, 11.2 deletion syndrome, 22Q, for short, really stuck. But what exactly is this

2:17.2

syndrome? You know, again, what causes it? What are the

2:19.4

signs and symptoms? How is it diagnosed and managed? What resources and referrals are necessary? And what is

2:26.5

the long-term outlook for those impacted by 22Q? You know, as a genetic syndrome, it is there

...

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