Overview
Deletion 20p, also known as monosomy 20p or partial deletion of the short arm of chromosome 20, is a rare chromosomal condition in which a piece of genetic material is missing from the short arm (called the 'p' arm) of chromosome 20. Because this entry is marked as obsolete in Orphanet, it means the classification has been updated or merged with more specific subtypes depending on the exact region of chromosome 20p that is deleted. However, the condition itself still affects individuals. When part of chromosome 20p is missing, it can disrupt the normal development of the brain, body, and organs. The signs and symptoms vary widely depending on the size and exact location of the deletion. Common features may include intellectual disability, developmental delays, distinctive facial features, growth problems, and sometimes heart or other organ abnormalities. Some children may have feeding difficulties in infancy and delayed speech or motor milestones. There is no cure for chromosomal deletions. Treatment focuses on managing individual symptoms through early intervention programs, special education, speech therapy, physical therapy, and medical care for any associated health problems such as heart defects or seizures. A team of specialists typically works together to support the child's development and quality of life. Genetic counseling is recommended for families to understand the specific deletion and its implications.
Also known as:
Key symptoms:
Intellectual disabilityDevelopmental delaysDelayed speech and languageDelayed motor milestones such as sitting and walkingUnusual facial featuresShort stature or growth problemsLow muscle tone (floppiness)Feeding difficulties in infancyHeart defectsSeizuresBehavioral challengesSmall head sizeLearning difficultiesPoor weight gain
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 OBSOLETE: Deletion 20p.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Deletion 20p.
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 OBSOLETE: Deletion 20p.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 my child's deletion on chromosome 20p?,Which specific genes are affected by this deletion, and what does that mean for my child?,What developmental milestones should I watch for, and when should I be concerned?,What early intervention services do you recommend starting right away?,Are there any heart, brain, or other organ problems we need to screen for?,Should other family members be tested for chromosomal changes?,What is the long-term outlook for my child's development and independence?
Common questions about OBSOLETE: Deletion 20p
What is OBSOLETE: Deletion 20p?
Deletion 20p, also known as monosomy 20p or partial deletion of the short arm of chromosome 20, is a rare chromosomal condition in which a piece of genetic material is missing from the short arm (called the 'p' arm) of chromosome 20. Because this entry is marked as obsolete in Orphanet, it means the classification has been updated or merged with more specific subtypes depending on the exact region of chromosome 20p that is deleted. However, the condition itself still affects individuals. When part of chromosome 20p is missing, it can disrupt the normal development of the brain, body, and orga
At what age does OBSOLETE: Deletion 20p typically begin?
Typical onset of OBSOLETE: Deletion 20p is neonatal. Age of onset can vary across affected individuals.