Dr. Andy

Reflections on medicine and biology among other things

Wednesday, April 06, 2005

Great medical reporting

Doctors didn't give Clanton Crumbley much chance of surviving. One suggested an abortion when a serious problem with the fetus was detected. Others suggested his parents leave the newborn baby at the hospital until he passed away....
Kim Crumbley said a test 19 weeks into her pregnancy showed that Clanton had a genetic abnormality so rare it doesn't even have a name
Apparently, the disorder is so rare, the AP can't even tell us what it is.

From the fact it was picked up at 19 weeks gestation, I think we can assume it is some sort of gross chromosomal abnormality, not a subtle defect. Trisomy 21 is not rare, and trisomy 13 (Patau Syndrome) and 18 (Edwards syndrome) are rare and usually fatal soon after birth, but have well-known eponyms and even share a support organization.

So what defect does the delightfully named Clanton Crumbley have? Could mosaicism (having a mix of cells with normal chromosomes and cells containing the genetic defect) explain his course? Has this unique case been reported in the medical literature? We will apparently never know.

Since the AP article references The Cullman Times ("Serving all of Cullman County") but a search revealed no article about Clanton Crumbley.

2 Comments:

At 8:09 PM, Blogger Vienna Mom said...

Actually, I know Clanton Crumbley. He and my son partially share a 6p chromosome deletion. It does not have a "name" as such, because no doctor has been able to attach him or herself to it (although a few have tried, by associating the deletion with a host of possible diseases they've researched.)

So anyway, if memory serves correctly, Clanton has a 6p25-6pter deletion. My son has a 6p24-6pter deletion. And yes, Dr. Smarty Pants, it is incredibly rare. Look it up.

 
At 12:52 PM, Anonymous Kristen B. said...

I know Clanton as well, he is my cousin. He is incredibly smart and out going. He is growing up quick! He is no different than the rest of us and i wouldn't trade him for anything. I'm glad Kim and Phillip's decision sent a miracle into our lives to enlighten us each and every day. He truely is a blessing sent from God.

 

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