Understanding Why You Belong Here
What are Sex Chromosome Aneuploidies (SCAs)
Sex chromosome aneuploidies (SCAs) are genetic conditions. They happen when a person is born with an extra or missing X or Y chromosome.
Most people have two sex chromosomes, like XX or XY. People with SCAs may have a different number, like XXY or XYY or just one X. Often people refer to these as their genetic signature.
Each person with an SCA is unique, even when they share the same genetic signature. Some people may have few symptoms, while others may need more medical care or support.
Common Types of SCAs (although there are many more…)
| Condition | Karyotype | Common Features (which vary among individuals) |
|---|---|---|
| Klinefelter Syndrome | 47,XXY | Developmental delays, tall stature, testicular dysfunction causing low testosterone and infertility, learning problems, ADHD, anxiety, depression, autism, and increased risk of osteoporosis, type 2 diabetes, autoimmune problems, metabolic syndrome and thrombosis. |
| Turner Syndrome | 45,X | Developmental delays, short stature, heart defects, kidney problems, ovarian dysfunction, hearing loss, autoimmune problems, learning problems, ADHD, autism and anxiety. |
| Triple X Syndrome | 47,XXX | Developmental delays, tall stature, heart defects, kidney problems, early menopause, learning problems, ADHD, autism, anxiety, depression |
| XYY Syndrome | 47,XYY | Developmental delays, tall stature, learning problems, ADHD, autism, anxiety, depression |
| XXYY Syndrome | 48,XXYY | Developmental delays, tall stature, testicular dysfunction causing low testosterone and infertility, cognitive impairment, ADHD, anxiety, depression, autism, osteoporosis, type 2 diabetes, autoimmune problems, metabolic syndrome and thrombosis |
What is NASCARR?
The Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) is a national consortium of academic centers across the United States working together to improve the lives of individuals with sex chromosome aneuploidies.
NASCARR brings together:
- Patients and Families
- Doctors and Clinicians
- Researchers and Scientists
- Patient Advocacy Groups (PAGs)
Our shared goals: Improve care, expand knowledge, and support the SCA community by advancing research.
Why including patients and families in advancing research is important:
- Your voice matters. People with SCAs and their families have an important voice to guide what researchers study.
- We learn what works. It builds the evidence base. Better data helps doctors understand health needs and provide better care.
- We speed up new treatments. Research helps create better and faster clinical trials and studies.
- We support advocacy. Good information helps families and support groups advocate for better care, funding, and policies.
- We improve care everywhere. What we learn through research helps doctors across the country provide better care for people with SCAs.
Learn more on how you can participate in NASCARR.
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