OBSOLETE: Anomaly of chromosome 19

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ORPHA:261754
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Overview

Anomaly of chromosome 19 is an obsolete term that was previously used to describe a group of rare chromosomal conditions involving structural or numerical changes in chromosome 19. This means that part of chromosome 19 may be missing (deleted), duplicated, rearranged, or otherwise altered. Because chromosome 19 contains many important genes that help the body develop and function properly, changes to this chromosome can affect multiple body systems. The symptoms and severity of chromosome 19 anomalies vary widely depending on the exact type and size of the chromosomal change. Some people may have intellectual disability, developmental delays, distinctive facial features, growth problems, or birth defects affecting the heart, brain, or other organs. Others may have milder symptoms or be affected in ways that are harder to detect. This term has been marked as obsolete in medical classification systems, meaning it is no longer used as a specific diagnosis. Instead, doctors now classify these conditions more precisely based on the exact chromosomal change involved, such as a specific deletion or duplication on chromosome 19. Treatment is generally supportive and tailored to each person's individual symptoms, as there is no single cure for chromosomal anomalies. Early intervention services, therapies, and regular medical follow-up can help improve quality of life.

Key symptoms:

Intellectual disabilityDevelopmental delaysUnusual facial featuresGrowth problems or short statureLow muscle toneSpeech and language delaysLearning difficultiesHeart defectsSeizuresBehavioral challengesFeeding difficulties in infancySmall head sizeDelayed motor milestones

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Anomaly of chromosome 19.

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No actively recruiting trials found for OBSOLETE: Anomaly of chromosome 19 at this time.

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No specialists are currently listed for OBSOLETE: Anomaly of chromosome 19.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Anomaly of chromosome 19.

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Community

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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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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 chromosomal change found, and what does it mean for my child's health?,Which organs or body systems should we monitor most closely?,What therapies and early intervention services do you recommend?,Should other family members be tested for this chromosomal change?,What is the expected developmental outlook for my child?,Are there any clinical trials or research studies we should know about?,How often should we schedule follow-up appointments with specialists?

Common questions about OBSOLETE: Anomaly of chromosome 19

What is OBSOLETE: Anomaly of chromosome 19?

Anomaly of chromosome 19 is an obsolete term that was previously used to describe a group of rare chromosomal conditions involving structural or numerical changes in chromosome 19. This means that part of chromosome 19 may be missing (deleted), duplicated, rearranged, or otherwise altered. Because chromosome 19 contains many important genes that help the body develop and function properly, changes to this chromosome can affect multiple body systems. The symptoms and severity of chromosome 19 anomalies vary widely depending on the exact type and size of the chromosomal change. Some people may