Overview
Partial deletion of chromosome 12 syndrome is a rare genetic condition in which a piece of chromosome 12 is missing. Chromosomes carry our genetic instructions, and when part of one is lost, it can affect how the body grows and develops. This condition is also sometimes called partial monosomy 12 or 12p deletion or 12q deletion, depending on which part of the chromosome is affected. Because chromosome 12 contains many important genes, the symptoms can vary widely depending on which segment is deleted and how large the deletion is. Common features may include developmental delays, intellectual disability, distinctive facial features, growth problems, and sometimes birth defects affecting the heart or other organs. Some children may have feeding difficulties, low muscle tone, and delayed speech or motor milestones. There is no single cure for this condition. Treatment focuses on managing individual symptoms and supporting the child's development. This typically involves early intervention programs, speech therapy, physical therapy, occupational therapy, and regular monitoring by a team of specialists. With appropriate support, many individuals can make meaningful developmental progress, though the degree of improvement depends on the size and location of the deletion.
Also known as:
Key symptoms:
Developmental delaysIntellectual disabilityDistinctive facial featuresLow muscle tone (floppiness)Short stature or growth delaysSpeech and language delaysFeeding difficulties in infancyHeart defectsSmall head sizeDelayed motor milestones such as sitting and walkingBehavioral challengesSeizures in some casesVision or hearing problemsSkeletal abnormalities
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 deletion of chromosome 12 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 deletion of chromosome 12 syndrome.
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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.Exactly which part of chromosome 12 is deleted, and how large is the deletion?,What specific symptoms should we watch for based on this deletion?,What early intervention therapies do you recommend starting right away?,Should we have our own chromosomes tested to understand the risk for future children?,How often should our child have cardiac, hearing, and vision screenings?,Are there any clinical trials or research studies we should know about?,What resources or support groups can you recommend for our family?
Common questions about Partial deletion of chromosome 12 syndrome
What is Partial deletion of chromosome 12 syndrome?
Partial deletion of chromosome 12 syndrome is a rare genetic condition in which a piece of chromosome 12 is missing. Chromosomes carry our genetic instructions, and when part of one is lost, it can affect how the body grows and develops. This condition is also sometimes called partial monosomy 12 or 12p deletion or 12q deletion, depending on which part of the chromosome is affected. Because chromosome 12 contains many important genes, the symptoms can vary widely depending on which segment is deleted and how large the deletion is. Common features may include developmental delays, intellectual
At what age does Partial deletion of chromosome 12 syndrome typically begin?
Typical onset of Partial deletion of chromosome 12 syndrome is neonatal. Age of onset can vary across affected individuals.