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Chromosome 18

It was so scary to learn that our child had a rare genetic disorder and the hospital didn’t have information to give us. Then to have the doctors give you worst case scenarios and not much hope. I’m so glad that I didn’t listen and I did my own research. The Chromosome 18 Registry & Research Society has been able to lead me in the necessary directions I needed to go. Finding answers to my questions of why my son was delayed in speech, why he had poor muscle tone, vision and hearing impairments, why he has such severe learning difficulties and feeding issues. I learned that each of our children “have complex medical and educational needs. And each child’s condition is dependent upon their syndrome. Some will, with appropriate therapies and treatment for their medical concerns, be able to live on their own or in a group setting. Others may spend a lifetime gaining basic self-help skills to function on a daily basis.”

The Science of Chromosome 18: Chromosome 18 is estimated to contain approximately 400 genes. Chromosome abnormalities involve the deletion or duplication of hundreds of genes.

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Trisomy 18: There are three copies instead of the usual two.

Tetrasomy 18p: An extra chromosome is present, which is made up of 2 copies of the short arm.

18 p-: There is a missing piece from the short arm of chromosome 18.

18 q-: There is a missing piece from the long arm of chromosome 18.

Ring 18: One of the copies of chromosome 18 forms a ring, and material is lost from both the long and short arms.                               

Things you need to know:

Is a non-profit, tax-exempt public Charity. That depend on contributions from individuals, businesses, and philanthropic foundations to support their work.

Their mission is to help individuals with Chromosome 18 abnormalities to overcome the challenges they face so that they might lead happy, healthy, and productive lives.

Their research lab is located at The University of Texas Health Science Center at San Antonio.

They Offer definitive medical and educational resources for the families of individuals with chromosome 18 abnormalities.

They perform and facilitate groundbreaking clinical and basic research relating to the abnormalities of chromosome 18.

They provide treatments to help individuals overcome the effects of their chromosome abnormality.

They have access to investigators from diverse medical subspecialties at the Health Science Center.

The Center investigators also collaborate with leading clinicians and experts worldwide.

No other medical research center in the entire world is doing what they are doing. They are the leader in the field.

Stoney Ridge Productions, Inc.

Pushing the boundaries of Chromosome 18 research!