Isodisomy | |
---|---|
Specialty | Obstetrics, pediatrics |
Symptoms | variable |
Causes | Genetic and environmental factors |
Diagnostic method | Amniocentesis, medical imaging |
Deaths | sometimes fatal |
Isodisomy is a form of uniparental disomy in which both copies of a chromosome, or parts of it, are inherited from the same parent. It differs from heterodisomy in that instead of a complete pair of homologous chromosomes, the fertilized ovum contains two identical copies of a single parental chromosome. [1] [2] This may result in the expression of recessive traits in the offspring. [3] Some authors use the term uniparental disomy and isodisomy interchangeably. [4]
This genetic abnormality can result in the birth of a normal child who has no obvious disability. [1] It is associated with abnormalities in the growth of the offspring and in the placenta. [2] Isodisomy may be a common phenomenon in human cells, and "might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability." [5]
Isodisomy | |
---|---|
Specialty | Obstetrics, pediatrics |
Symptoms | variable |
Causes | Genetic and environmental factors |
Diagnostic method | Amniocentesis, medical imaging |
Deaths | sometimes fatal |
Isodisomy is a form of uniparental disomy in which both copies of a chromosome, or parts of it, are inherited from the same parent. It differs from heterodisomy in that instead of a complete pair of homologous chromosomes, the fertilized ovum contains two identical copies of a single parental chromosome. [1] [2] This may result in the expression of recessive traits in the offspring. [3] Some authors use the term uniparental disomy and isodisomy interchangeably. [4]
This genetic abnormality can result in the birth of a normal child who has no obvious disability. [1] It is associated with abnormalities in the growth of the offspring and in the placenta. [2] Isodisomy may be a common phenomenon in human cells, and "might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability." [5]