Overview
Anomaly of chromosome 22 is an obsolete (no longer actively used) classification that was previously used to describe a group of conditions caused by structural changes in chromosome 22. Chromosome 22 is one of the 23 pairs of chromosomes in human cells, and changes to its structure — such as deletions (missing pieces), duplications (extra copies of pieces), or rearrangements — can lead to a wide range of health problems. Because this is a broad, outdated category, the specific symptoms and severity depend entirely on which part of chromosome 22 is affected and how much genetic material is involved. Some of the most well-known conditions linked to chromosome 22 abnormalities include 22q11.2 deletion syndrome (also called DiGeorge syndrome or velocardiofacial syndrome), cat eye syndrome (caused by extra material from chromosome 22), and certain cancers associated with translocations involving chromosome 22. Symptoms can range from heart defects, immune system problems, learning difficulties, and facial differences to more mild or even unnoticeable effects. Because this term is obsolete, patients today are typically given a more specific diagnosis based on the exact change found in their chromosome 22. Treatment depends on the specific condition and symptoms present, and may include surgery, therapy, medications, and supportive care from a team of specialists.
Key symptoms:
Heart defects present at birthLearning difficulties or intellectual disabilityDelayed speech and language developmentUnusual facial featuresImmune system problems or frequent infectionsCleft palate or feeding difficultiesShort stature or growth delaysLow muscle toneHearing lossKidney or urinary tract problemsBehavioral or emotional challengesSeizuresVision problems
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 22.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Anomaly of chromosome 22.
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: Anomaly of chromosome 22.
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 specific part of chromosome 22 is affected, and what does that mean for my child's health?,Which organs or body systems should we monitor most closely?,What therapies or early interventions should we start right away?,Is this change inherited, and should other family members be tested?,What specialists should be part of our care team?,Are there any clinical trials or new treatments being studied for this condition?,What should I watch for that would require emergency medical attention?
Common questions about OBSOLETE: Anomaly of chromosome 22
What is OBSOLETE: Anomaly of chromosome 22?
Anomaly of chromosome 22 is an obsolete (no longer actively used) classification that was previously used to describe a group of conditions caused by structural changes in chromosome 22. Chromosome 22 is one of the 23 pairs of chromosomes in human cells, and changes to its structure — such as deletions (missing pieces), duplications (extra copies of pieces), or rearrangements — can lead to a wide range of health problems. Because this is a broad, outdated category, the specific symptoms and severity depend entirely on which part of chromosome 22 is affected and how much genetic material is inv