[Dysphagia] Ring chromosome 22

[Lana.Benson at hhs.co.santa-clara.ca.us (Benson, Lana)]

Ring chromosome is basically where a peice of the chromosome replicates 
as a circle so you get other copies.  Depending on the number of rings 
present (looks like donuts in the karyotype) they can have various gene 
dosage problems.  I think this one is associated with cri-du-chat 
syndrome, but am not sure.  Symptoms will depend on which portions of 
chr 22 made it into the ring and how many rings there are, I don't think 
there are common rearrangements like trisomy 21 where a certain region 
always gets duplicated.

Hope this info helps. (thanks to my virologist brother!)
Lana Benson

-----Original Message-----
From: Irene Campbell-Taylor [mailto:eripley@yahoo.com]
Sent: Wednesday, October 13, 2004 4:16 PM
To: Kate Milford (CMDHB); dysphagia@b9.com
Subject: Re: [Dysphagia] Ring chromosome 22


There are very many conditions associated with
impairments of chromosome 22. Do you know where,
exactly on the chromosome the defect is located? There
is nothing I know of in McKusick called Ring
chromosome 22. Anyone else know of it?
Irene.
--- "Kate Milford (CMDHB)" <KMilford@middlemore.co.nz>
wrote:

> I have been asked to assess the swallowing of a 25
> year old man with
> ring chromosome 22, following a recent choking
> episode. Are there any
> specific swallowing difficulties associated with
> this disorder? I
> understand that the clinical features include a
> global developmental
> delay, hypotonia, severe delays in expressive
> speech, and mild facial
> dysmorphic features. 
> Many thanks for your help!
> Kate
> Community SLT in New Zealand
> _______________________________________________
> Dysphagia mailing list
> Dysphagia@b9.com
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> 


=====
Dr I Campbell-Taylor
Clinical Neuroscientist
Exclusive Distributor:
www.interactivetherapy.com
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