Overview
Partial duplication of the long arm of chromosome 20 syndrome (also called partial trisomy 20q) is a rare chromosomal disorder in which a portion of the long arm (called the 'q' arm) of chromosome 20 is duplicated, meaning there is extra genetic material from that region. This extra chromosomal material disrupts normal development and can affect multiple body systems. Because the size and exact location of the duplicated segment can vary from person to person, the symptoms and severity of this condition also vary widely. Common features may include intellectual disability, developmental delays, distinctive facial features, growth problems, and sometimes birth defects affecting the heart or other organs. Some individuals may have low muscle tone (hypotonia), feeding difficulties in infancy, and speech or language delays. Behavioral challenges and learning difficulties are also reported in some cases. There is currently no cure for this condition. Treatment is supportive and tailored to each person's specific symptoms. This may include early intervention programs, speech therapy, physical therapy, occupational therapy, and special education services. Medical specialists may be needed to manage heart defects, seizures, or other organ-specific problems. With appropriate support, many individuals can make meaningful developmental progress, though the degree of improvement depends on the size and location of the duplication and the specific genes involved.
Also known as:
Key symptoms:
Intellectual disabilityDevelopmental delaysSpeech and language delaysUnusual facial featuresLow muscle tone (floppy muscles)Growth delays or short statureFeeding difficulties in infancyHeart defects present at birthSeizuresBehavioral challengesLearning difficultiesSmall head sizeSkeletal abnormalitiesPoor coordination
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Partial duplication of the long arm of chromosome 20 syndrome.
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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
No travel grants are currently matched to Partial duplication of the long arm of chromosome 20 syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 size and location of the duplication on chromosome 20, and which genes are involved?,Did this duplication happen spontaneously, or could it have been inherited from a parent?,What developmental outcomes can we expect based on the specific duplication found?,What early intervention services should we start right away?,Should we have our other children or family members tested for chromosomal rearrangements?,What medical complications should we watch for, and how often should screening tests be done?,Are there any clinical trials or research studies we could participate in?
Common questions about Partial duplication of the long arm of chromosome 20 syndrome
What is Partial duplication of the long arm of chromosome 20 syndrome?
Partial duplication of the long arm of chromosome 20 syndrome (also called partial trisomy 20q) is a rare chromosomal disorder in which a portion of the long arm (called the 'q' arm) of chromosome 20 is duplicated, meaning there is extra genetic material from that region. This extra chromosomal material disrupts normal development and can affect multiple body systems. Because the size and exact location of the duplicated segment can vary from person to person, the symptoms and severity of this condition also vary widely. Common features may include intellectual disability, developmental delay
At what age does Partial duplication of the long arm of chromosome 20 syndrome typically begin?
Typical onset of Partial duplication of the long arm of chromosome 20 syndrome is neonatal. Age of onset can vary across affected individuals.