Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern.

Abstract excerpt

Patients with autosomal recessive (AR) disorders are usually born to parents both of whom are heterozygous carriers of the disease. However, in some instances only one of the parents is a carrier and a mutation is segregated to the patient through uniparental isodisomy (UPiD). Recently, an increasing number of such case reports has been published, and it has become clear that there are several different UPiD...

Topics

• Child, Preschool
• Chromosome Disorders
• Female
• Humans
• Infant
• Infant, Newborn
• Male
• Paternal Inheritance
• Polymorphism, Single Nucleotide
• Uniparental Disomy