Overview
Anomaly of chromosome 12 is an obsolete term that was previously used to describe a group of rare genetic conditions caused by structural or numerical changes in chromosome 12. Chromosome 12 is one of the 23 pairs of chromosomes in human cells, and it carries many important genes that help the body develop and function properly. When parts of chromosome 12 are missing (deleted), duplicated, rearranged, or present in extra copies, it can lead to a wide range of health problems depending on which genes are affected. This term is no longer actively used in modern medical classification because the specific types of chromosome 12 abnormalities are now described more precisely. For example, conditions like Pallister-Killian syndrome (caused by extra copies of the short arm of chromosome 12) or specific deletions or duplications of chromosome 12 segments are now classified as separate disorders. Symptoms can vary greatly but may include intellectual disability, developmental delays, distinctive facial features, growth problems, and birth defects affecting the heart or other organs. Because this is an umbrella term covering many different chromosome 12 changes, there is no single treatment. Management is based on the specific symptoms each person has and may involve a team of specialists. Genetic counseling is recommended for affected families to understand the specific chromosome change and its implications.
Key symptoms:
Intellectual disabilityDevelopmental delaysUnusual facial featuresGrowth problems (short stature or overgrowth)Low muscle toneHeart defects present at birthSeizuresSpeech and language delaysLearning difficultiesBehavioral challengesFeeding difficulties in infancySkeletal abnormalitiesVision problemsHearing loss
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Anomaly of chromosome 12.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Anomaly of chromosome 12.
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
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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.What specific type of chromosome 12 change does my child have, and which genes are affected?,What symptoms or health problems should I watch for based on this specific change?,Is this chromosome change inherited, or did it happen by chance? Should other family members be tested?,What therapies and early intervention services do you recommend starting now?,How often should we schedule follow-up appointments and screening tests?,Are there any clinical trials or research studies that might be relevant?,Can you refer us to a genetic counselor to help us understand the long-term outlook?
Common questions about OBSOLETE: Anomaly of chromosome 12
What is OBSOLETE: Anomaly of chromosome 12?
Anomaly of chromosome 12 is an obsolete term that was previously used to describe a group of rare genetic conditions caused by structural or numerical changes in chromosome 12. Chromosome 12 is one of the 23 pairs of chromosomes in human cells, and it carries many important genes that help the body develop and function properly. When parts of chromosome 12 are missing (deleted), duplicated, rearranged, or present in extra copies, it can lead to a wide range of health problems depending on which genes are affected. This term is no longer actively used in modern medical classification because t