Answer to the ring question

[Guest guest]

I asked our specialists about the ring and this is the response. If you have

more questions, just let me know.

Kristy

Date: Thu, 26 Aug 2004 07:48:37 -0400

From: Colleen -Cook

To: Kristy Colvin

CC: Vanner

Subject: Re: Genetic question from IMDSA member

There are different chromosomal findings that can result in imbalance of

chromosome 21. A ring is a type of chromosomal change that gets its name from

the shape (circular or " ring " shaped) of the altered chromosome. Without seeing

the cytogenetics report I cannot answer any specific questions about this case.

However, we have seen children who have mosaicism for Down syndrome resulting

from a structural change invovling 21 rather than a numerical change. The amount

of chromatin that is involved in the altered chromosome 21 can influence the

outcome (phenotype) in some cases. If you have any further questions I am happy

to answer those as best I can, but I may need more information to be more

specific about this case.

Best wishes,

Colleen

Hello everyone!

My name is Shellette. I'm a married mother of one. My daughter, Saniya, is 8

months and she is diagnosed with mosaic down syndrome. I'm looking forward to

making new friends and learning more about mosaic down syndrome. When my

daughter went to the doctor at 6 months, the genetics doctor said that her case

is even rarer because one of her cells have formed a ring or something. I would

like to know if anyone else have hear of this? TIA(thanks in advance.