Overview
Paternal 20q13.2q13.3 microdeletion syndrome is an extremely rare genetic condition caused by a small missing piece (microdeletion) of genetic material on the long arm of chromosome 20, specifically in the region labeled 20q13.2 to 20q13.3. Importantly, this condition occurs when the deletion is inherited from or occurs on the copy of chromosome 20 that came from the father. This distinction matters because some genes in this region are subject to genomic imprinting, meaning they are expressed differently depending on which parent they were inherited from. The syndrome is associated with developmental delay, intellectual disability, and various physical features that may be present from birth or early childhood. Children with this condition may show delays in reaching milestones such as sitting, walking, and talking. Growth problems, feeding difficulties, and distinctive facial features have also been described. Because so few cases have been reported in the medical literature, the full range of symptoms and their severity is still being understood. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development through therapies such as speech therapy, physical therapy, and occupational therapy. Early intervention programs can help children reach their full potential. Regular follow-up with a team of specialists is important to monitor development and address any medical concerns as they arise.
Key symptoms:
Developmental delayIntellectual disabilitySpeech and language delaysLow muscle tone (floppiness)Feeding difficulties in infancyGrowth problems or short statureDistinctive facial featuresBehavioral difficultiesDelayed motor milestones such as walkingPossible seizuresLearning difficulties
Clinical phenotype terms (24)— hover any for plain English
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 Paternal 20q13.2q13.3 microdeletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for Paternal 20q13.2q13.3 microdeletion syndrome.
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 Paternal 20q13.2q13.3 microdeletion syndrome.
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 of my child's deletion and which genes are affected?,How can we confirm that the deletion is on the paternal chromosome?,What developmental therapies should we start and how soon?,Are there any specific medical complications we should watch for?,Should other family members be tested for this deletion?,What educational supports and accommodations should we request?,How often should we schedule follow-up appointments and with which specialists?
Common questions about Paternal 20q13.2q13.3 microdeletion syndrome
What is Paternal 20q13.2q13.3 microdeletion syndrome?
Paternal 20q13.2q13.3 microdeletion syndrome is an extremely rare genetic condition caused by a small missing piece (microdeletion) of genetic material on the long arm of chromosome 20, specifically in the region labeled 20q13.2 to 20q13.3. Importantly, this condition occurs when the deletion is inherited from or occurs on the copy of chromosome 20 that came from the father. This distinction matters because some genes in this region are subject to genomic imprinting, meaning they are expressed differently depending on which parent they were inherited from. The syndrome is associated with deve
At what age does Paternal 20q13.2q13.3 microdeletion syndrome typically begin?
Typical onset of Paternal 20q13.2q13.3 microdeletion syndrome is neonatal. Age of onset can vary across affected individuals.