Cracking the Code: Understanding Rare Chromosome Disorders

This is a very basic video about Chromosome Disorders. It talks about what Chromosomes are, different types of disorders, and basic Q&A for families with a new diagnosis. Questions answered are: What is a geneticist, and what do they do? Why does a child see a geneticist? What should parents do when they receive a confirmed diagnosis? Why bother with genetic testing?

Special thanks to the families affected by Chromosome Disorders who submitted videos and pictures to include, and to Dr. Manickam, Ron Allan, and Jason Hency for volunteering their services to help make this project a reality.

Category:

Education

Tags:

• Chromosome Disorders
• Genetics
• Chromosome
• Geneticist
• CDO
• Unique
• Developmental Delay
• Chromosome Deletion
• Chromosome Duplication
• Chromosome 6
• Chromosome Abnormality
• Birth Defects
• Chromosome 6q Deletion
• Chromosome 6q Duplication
• Chromosome 6 Disorder
• Genetic Abnormality
• Genetic Mutation

[lizzymcpherson]

If you register with Unique and CDO (at the end of this video) you can get information about your child's disorder as well as connect with families who share c2 deletions.. ALSO, I believe there is a chromosome 2 Support Group on Facebook as well.

[babymumma89]

@lizzymcpherson.: thank you for your reply.,When our son was born, we were given the Unique information sheet, but still it can be confusing. We are flying to a Children's Hospital in regards to hopefully get more information, assessments and tests .. but thank you. I will try and find the facebook group.

[lizzymcpherson]

@babymumma89 We do have other families in the c6 FB group with deletions of that area who also live in AUS. :)

[babymumma89]

I have spent many months trying to find someone out there who suffers from a chromosome deletion but no one replies. . My son was born with Chromosome Deletion 6q Deletions from 6q26 and 6q27. The name is hard to remember but i jsut need people to talk with. He is 15 months and has a developmental delay and i wish youtube didn't have a character limit. because i just want to share more. please some1 write tome

[lizzymcpherson]

@babymumma89 ... Unique and CDO are the two non-profits who can give you information and connect you to families-- their websites are in this video at the end...There is a Chromosome 6 Facebook group as well--with families who have that particular deletion. I suggest visiting those places. The facebook group is private, so you'll have to request to join and email one of the administrators with your karyotype in order to be approved.

[icupfreely23]

Just for the learning :

Down syndrome ( trisomy 21) is not actually a disruption in genetic code but a extra 21st chromosome.

[lizzymcpherson]

@icupfreely23 Trisomy 21 (Down Syndrome), is an alteration of the genetic code, which is how it is addressed in this video.

[mumof3hamiltons]

@julespopcorn hi my son is 2 yrs and has 16p13.2

[j61325]

hi we just found out that son chromosome 2 deletion anyone else know someone with this or have info on this please thank you xx

[leahweitzman]

I have this affecting my family in the most weardest way my 2 youngest don't share what they have, Jazz has deletions in the 22nd (DiGeorge from her dad) & Arayl has deletions in the 7th & a ring in the 13th with deletions too... I've been told that no one has found anyone with Arayl's combo...

[julespopcorn]

@girlchristian1 Hi. Where does your friend live? I have a son with 16p13.2. I know 1 other person in the Huston area.

[babymumma89]

@lizziemcpherson. Do uno how I can find this or what I need to type in FB, in order to find it