Overview
Anomaly of chromosome 20 is an obsolete (no longer actively used) classification that was previously used to describe a group of rare genetic conditions caused by structural or numerical changes in chromosome 20. Chromosome 20 is one of the 23 pairs of chromosomes found in human cells, and it carries important genes that help the body develop and function properly. When parts of chromosome 20 are missing (deleted), duplicated, rearranged, or otherwise altered, it can lead to a wide range of health problems depending on which genes are affected and how much of the chromosome is involved. Because this term covered many different types of chromosome 20 abnormalities, the symptoms varied greatly from person to person. Some individuals experienced developmental delays, intellectual disability, growth problems, distinctive facial features, and organ abnormalities. Others had milder symptoms or were affected in very specific ways depending on the exact nature of the chromosomal change. This classification has been retired in favor of more specific diagnoses, such as chromosome 20p deletion syndrome, chromosome 20q deletion syndrome, ring chromosome 20 syndrome, or trisomy 20 mosaicism. If you or your child has been given this older diagnosis, it is important to work with a clinical geneticist to determine the precise chromosomal change involved, as this will guide treatment, monitoring, and prognosis. Treatment is generally supportive and tailored to each person's specific symptoms, as there is no single cure for chromosomal abnormalities.
Key symptoms:
Developmental delaysIntellectual disabilityGrowth problems (short stature or poor weight gain)Distinctive facial featuresSeizures or epilepsyLow muscle tone (floppiness)Speech and language delaysLearning difficultiesBehavioral challengesHeart defectsFeeding difficulties in infancySkeletal abnormalitiesVision or hearing problems
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Anomaly of chromosome 20.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the exact type and size of the chromosome 20 change in my child?,Which specific genes are affected, and what symptoms should I watch for?,What specialists should we see, and how often?,What early intervention services would benefit my child the most right now?,Is this chromosomal change inherited, and should other family members be tested?,Are there any clinical trials or research studies we should consider?,What is the long-term outlook for my child's development and health?
Common questions about OBSOLETE: Anomaly of chromosome 20
What is OBSOLETE: Anomaly of chromosome 20?
Anomaly of chromosome 20 is an obsolete (no longer actively used) classification that was previously used to describe a group of rare genetic conditions caused by structural or numerical changes in chromosome 20. Chromosome 20 is one of the 23 pairs of chromosomes found in human cells, and it carries important genes that help the body develop and function properly. When parts of chromosome 20 are missing (deleted), duplicated, rearranged, or otherwise altered, it can lead to a wide range of health problems depending on which genes are affected and how much of the chromosome is involved. Becau