Paternal uniparental disomy of chromosome X syndrome

Paternal uniparental disomy of chromosome X syndrome (also sometimes referred to as paternal UPD X) is an extremely rare chromosomal condition. In a typical situation, females receive one X chromosome from their mother and one X chromosome from their father. In this syndrome, a female individual receives both copies of the X chromosome from the father instead of one from each parent. This is called uniparental disomy — meaning both copies of a particular chromosome come from one parent. Because certain genes on the X chromosome may be subject to genomic imprinting (where the activity of a gene depends on which parent it was inherited from), having two paternal copies instead of one maternal and one paternal copy can disrupt normal gene expression. The clinical features of this condition are not well characterized due to its extreme rarity, but it may be associated with developmental differences, growth abnormalities, or other features depending on which genes are affected. Some cases may also involve Turner syndrome mosaicism or other chromosomal complexities. Because so few cases have been reported in the medical literature, there is no established standard treatment. Management is based on the specific symptoms each individual presents with. Genetic counseling is recommended for affected individuals and their families to understand the condition and its implications.

Bring these to your next appointment

• Q1.What specific symptoms should I watch for as my child grows?,Are there any additional genetic tests that should be done to check for related problems?,How often should my child have developmental and growth assessments?,Should we see a pediatric endocrinologist to check hormone levels?,What early intervention services would benefit my child?,Is there any risk of this happening again in future pregnancies?,Are there any research studies or registries we can participate in?

Common questions about Paternal uniparental disomy of chromosome X syndrome

Related conditions

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

• Turner syndrome→