Paternal disomy is found in?
Ans. B. Angelman syndromea. Paternal uniparental disomy (upd(15)pat results from the fertilization of an oocyte that is nullisomic for chromosome 15 and the postzygotic duplication of the paternal chromosome. Upd(15)pat is associated with the loss of function of the maternally expressed UBE3A gene, which leads to Angelman syndrome (AS).b. Angelman syndrome (AS) is a neurological disorder first described in 1965 by an English physician named Dr. Harry Angelman.Symptoms are usually evident after the age of three, and are characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities.c. Maternal uniparental disomy for chromosome 15 (upd(15)mat) is the second most common finding in patients with Prader-Willi syndrome (PWS).d. PWS is characterized by neonatal hypotonia, hypogonadism, hyperphagia leading to obesity, short stature, small hands and feet, behavioral problems and mental retardation.
Prader-Willi syndrome
Angelman syndrome
Fragile X syndrome
Hydatiform mole
Molecular Genetics