Paternal uniparental disomy of chromosome 1 syndrome

Paternal uniparental disomy of chromosome 1 syndrome (also written as pat UPD1 or UPD(1)pat) is a very rare genetic condition. Normally, you inherit one copy of each chromosome from your mother and one from your father. In this condition, a person has received both copies of chromosome 1 from their father, with no copy from their mother. This unusual situation can disrupt the normal activity of certain genes on chromosome 1 that are 'imprinted' — meaning they are supposed to be active only when inherited from a specific parent. When the balance is off, some genes may be overactive or underactive, leading to health problems. The effects of this condition can vary quite a bit from person to person. Reported features include problems with growth, differences in development, and changes in how the body regulates certain hormones or metabolic processes. Because chromosome 1 is the largest human chromosome and carries many genes, the range of possible effects is broad. Some individuals may have intellectual disability, growth abnormalities, or features that overlap with other known imprinting disorders. Because this condition is extremely rare and only a small number of cases have been described in medical literature, our understanding of its full range of symptoms and long-term outlook is still growing. Treatment is currently focused on managing individual symptoms rather than correcting the underlying genetic cause. A team of specialists working together gives patients the best chance of addressing their specific needs.

Bring these to your next appointment

• Q1.What specific features of chromosome 1 are affected in my child's case, and what does that mean for their health?,What specialists should be part of my child's care team, and how often should we see each one?,Are there any metabolic or hormonal problems we should screen for regularly?,What early intervention therapies would you recommend, and how do we access them?,What developmental milestones should we be watching most closely?,Is there a risk of this condition recurring in future pregnancies, and should other family members be tested?,Are there any research studies or patient registries we could join to help advance understanding of this condition?

Common questions about Paternal uniparental disomy of chromosome 1 syndrome

Related conditions

Other rare diseases commonly researched alongside Paternal uniparental disomy of chromosome 1 syndrome.

• Angelman syndrome→
• Beckwith-Wiedemann syndrome→
• Maternal uniparental disomy of chromosome 1 syndrome→
• Prader-Willi syndrome→
• Silver-Russell syndrome→