maternal uniparental disomy of chromosome 6

Maternal uniparental disomy of chromosome 6 is a genetic condition where both copies of chromosome 6 are inherited from the mother. This condition is known for causing intrauterine growth retardation, meaning that growth before birth is affected. In some cases, having two copies of a recessive gene mutation (with the mother being the only carrier) may lead to additional health features. This summary is based on information available from trusted sources and highlights the main aspects of the condition.

One of the main symptoms is intrauterine growth retardation, which means affected individuals may have lower birth weights or smaller size at birth. Additional symptoms may occur if there is homozygosity for a recessive disease mutation, but detailed information about such symptoms remains limited.

This condition is caused by a genetic event known as uniparental disomy, where both copies of chromosome 6 come from the mother instead of one copy from each parent. In cases where the mother is a carrier of a recessive mutation, having two copies may lead to extra health issues. The genetic mechanism behind this condition is a rare event that occurs during the formation of reproductive cells.

Information about treatment options is currently limited for this condition.

Information about prognosis and long-term outlook is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.