Overview
Partial duplication of the long arm of chromosome 19 syndrome (also called partial trisomy 19q) is a very rare chromosomal condition in which a person has an extra copy of part of the long arm (called the 'q arm') of chromosome 19. This means that instead of the usual two copies of certain genes in that region, there are three copies. The extra genetic material disrupts normal development and can affect many parts of the body. The signs and symptoms vary depending on exactly which portion of chromosome 19q is duplicated and how large the duplicated segment is. Common features may include intellectual disability, developmental delays (such as delayed speech and motor milestones), distinctive facial features, growth problems, and sometimes birth defects affecting the heart, kidneys, or other organs. Some individuals may have low muscle tone (hypotonia) or feeding difficulties in infancy. Because this condition is extremely rare, there is no specific cure or targeted therapy. Treatment is supportive and tailored to each person's individual symptoms. This may include early intervention programs, speech therapy, physical therapy, occupational therapy, special education services, and medical management of any associated birth defects or health problems. A team of specialists typically works together to provide the best care.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech developmentDelayed motor milestones such as sitting and walkingDistinctive facial featuresLow muscle tone (floppiness)Growth delays or short statureFeeding difficulties in infancyHeart defects present at birthKidney or urinary tract abnormalitiesSeizuresSmall head sizeBehavioral difficultiesLearning difficultiesSkeletal abnormalitiesVision or hearing problems
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 19 syndrome.
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Specialists
View all specialists →No specialists are currently listed for Partial duplication of the long arm of chromosome 19 syndrome.
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 19 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.Exactly which part of chromosome 19q is duplicated, and how large is the duplication?,What specific health screenings should my child have based on this duplication?,What developmental milestones should we watch for, and when should we be concerned?,Should other family members be tested for chromosomal rearrangements?,What early intervention therapies do you recommend starting right away?,Are there any specialists we should see that we haven't been referred to yet?,What is the chance of this happening again in a future pregnancy?
Common questions about Partial duplication of the long arm of chromosome 19 syndrome
What is Partial duplication of the long arm of chromosome 19 syndrome?
Partial duplication of the long arm of chromosome 19 syndrome (also called partial trisomy 19q) is a very rare chromosomal condition in which a person has an extra copy of part of the long arm (called the 'q arm') of chromosome 19. This means that instead of the usual two copies of certain genes in that region, there are three copies. The extra genetic material disrupts normal development and can affect many parts of the body. The signs and symptoms vary depending on exactly which portion of chromosome 19q is duplicated and how large the duplicated segment is. Common features may include inte
At what age does Partial duplication of the long arm of chromosome 19 syndrome typically begin?
Typical onset of Partial duplication of the long arm of chromosome 19 syndrome is neonatal. Age of onset can vary across affected individuals.