Overview
Partial duplication of the short arm of chromosome 19 syndrome (also called partial trisomy 19p) is a very rare chromosomal condition in which a person has an extra copy of part of the short arm (called the "p" 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 can disrupt normal development and lead to a range of physical and developmental problems. The symptoms can vary widely depending on the exact size and location of the duplicated segment. Common features may include intellectual disability or developmental delay, distinctive facial features, growth problems, low muscle tone (hypotonia), and sometimes heart defects or other organ abnormalities. Some children may have feeding difficulties in infancy and delayed speech or motor milestones. Because this condition is extremely rare, there is no specific cure or targeted treatment. Management focuses on addressing individual symptoms through supportive therapies such as speech therapy, physical therapy, occupational therapy, and special education services. Heart defects or other structural problems may require surgical intervention. Early intervention programs can help children reach their full developmental potential. A team of specialists typically works together to provide comprehensive care tailored to each person's needs.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones such as sitting and walkingDistinctive facial featuresLow muscle tone (floppiness)Growth delays or short statureFeeding difficulties in infancyHeart defectsSmall head sizeBehavioral challengesSeizures in some casesVision or eye problemsHearing difficulties
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 short arm of chromosome 19 syndrome.
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Specialists
View all specialists →No specialists are currently listed for Partial duplication of the short 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 short 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.What is the exact size and location of the duplication on chromosome 19, and what does that mean for my child's health?,Did this duplication happen spontaneously, or could it have been inherited from a parent?,What developmental milestones should we watch for, and when should we be concerned?,Which specialists should my child see regularly, and how often?,Are there any specific health complications we should screen for, such as heart defects or seizures?,What early intervention services are available and how do we access them?,Should other family members be tested for chromosomal rearrangements?
Common questions about Partial duplication of the short arm of chromosome 19 syndrome
What is Partial duplication of the short arm of chromosome 19 syndrome?
Partial duplication of the short arm of chromosome 19 syndrome (also called partial trisomy 19p) is a very rare chromosomal condition in which a person has an extra copy of part of the short arm (called the "p" 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 can disrupt normal development and lead to a range of physical and developmental problems. The symptoms can vary widely depending on the exact size and location of the duplicated segment. Common features may include intellectual disa
At what age does Partial duplication of the short arm of chromosome 19 syndrome typically begin?
Typical onset of Partial duplication of the short arm of chromosome 19 syndrome is neonatal. Age of onset can vary across affected individuals.