References

by Todd

chromosome illustration

Chromosome Illustration

Biology class seems like such a long time ago. Here’s information on what is going on, where to find more information, what that information means.

Glossary

chromosome: structures in the nucleus of the body’s cells that carry the genetic information that controls our development and function

del: shorthand for “deletion” when used in a karyotype; meaning a deletion in the chromosome structure

karyotype: shorthand code for the chromosome make-up of a cell

p: refers to the short arm of the chromosome

q: refers to the long arm of the chromosome

Katy’s karyotype is: 46,xx, del (6) q13q14.2 – meaning she has the normal number of paired chromosomes (46) is female (xx) and has a deletion on chromosome 6 on the long arm (q) between the 13 and 14.2 regions.

Links

Unique: www.rarechromo.org – probably the most information available in one site

Support Groups

http://health.groups.yahoo.com/group/chromosome6deletionsyndrome/ – The original Chromosome 6 deletion support group
http://www.chromodisorder.org/CDO/ – Chromosome Disorder Outreach
Facebook has two main groups involved with chromosome 6 deletions – click here for the “Chromosome 6” group, and click here for the “Chromosome 6q deletion” group.

Videos

Cracking the Code: Understanding Rare Chromosome Disorders – this video was produced by a family with a child with a chromosome 6 deletion. Very good introduction to the topic of chromosome disorders.

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