Overview
Uniparental disomy of chromosome X syndrome (also called UPD of chromosome X or maternal/paternal UPD X) is an extremely rare genetic condition in which a person inherits both copies of the X chromosome from one parent instead of one copy from each parent. Normally, you receive one X chromosome from your mother and one sex chromosome (X or Y) from your father. In this condition, both X chromosomes come from the same parent, which can lead to problems because certain genes on the X chromosome may be improperly activated or silenced through a process called genomic imprinting, or because hidden recessive mutations carried by one parent may be unmasked when two copies of that parent's X chromosome are present. The symptoms of this condition can vary widely depending on whether the two X chromosomes came from the mother (maternal UPD) or the father (paternal UPD), and whether any recessive disease-causing gene variants are present on the duplicated chromosome. Possible features may include growth problems, developmental delays, intellectual disability, and features that overlap with Turner syndrome or other X-linked conditions. Because this syndrome is so rare, the full range of symptoms and their severity are not completely understood. There is currently no cure for uniparental disomy of chromosome X syndrome. Treatment is based on managing the specific symptoms each individual experiences. This may include developmental support services, hormone therapy if growth or puberty is affected, and regular monitoring by a team of specialists. Early diagnosis through genetic testing can help guide appropriate care and intervention.
Also known as:
Key symptoms:
Growth problems or short statureDevelopmental delaysIntellectual disabilityDelayed puberty or abnormal sexual developmentLearning difficultiesFeatures overlapping with Turner syndromePossible infertilitySpeech and language delaysBehavioral differencesPossible features of X-linked recessive conditions
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Uniparental disomy of chromosome X syndrome.
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Specialists
View all specialists →No specialists are currently listed for Uniparental disomy of chromosome X 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 Uniparental disomy of chromosome X 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
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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.Is the uniparental disomy in my case maternal or paternal, and does that make a difference for symptoms?,Are there any X-linked recessive conditions that have been unmasked by this genetic change?,What specific developmental or medical screenings should be done regularly?,Should my child receive growth hormone or other hormone therapy?,What early intervention services would benefit my child the most?,Are there implications for future pregnancies or fertility for the affected person?,Should other family members undergo genetic testing?
Common questions about Uniparental disomy of chromosome X syndrome
What is Uniparental disomy of chromosome X syndrome?
Uniparental disomy of chromosome X syndrome (also called UPD of chromosome X or maternal/paternal UPD X) is an extremely rare genetic condition in which a person inherits both copies of the X chromosome from one parent instead of one copy from each parent. Normally, you receive one X chromosome from your mother and one sex chromosome (X or Y) from your father. In this condition, both X chromosomes come from the same parent, which can lead to problems because certain genes on the X chromosome may be improperly activated or silenced through a process called genomic imprinting, or because hidden
How is Uniparental disomy of chromosome X syndrome inherited?
Uniparental disomy of chromosome X syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.