Maternal disomy of chromosome 15 is seen in ?
Correct Answer: Prader - Willi syndrome
Description: Ans. is 'a' i.e., Prader-willi syndrome In Prader- Willi syndrome, about 60% of cases have maternal uniparental disomy (maternal UPD- missing the paternal chromosome 15). o Uniparental disomy (UPD) occurs when both chromosomes of a pair of chromosomes in a person with a normal number of chromosomes have been inherited from only one parent. o It can be of maternal (maternal UPD) or paternal origin (paternal UPD). o For example, Russell- Silver syndrome (UPD maternal Chromosome 7) Prader- Willi syndrome, (UPD maternal chromosomel5 in 60% cases). Angelman syndrome (UPD paternal chromosome 15 in 5%). o It can be : Uniparental isodisomy Uniparental heterodisomy o Uniparental isodisomy paicularly impoant when the parent is a carrier of an autosoma recessive disorder. The child will develop an autosomal recessive disorder even though one parent is a carrier of that recessive disorder. o The autosomal recessive disorders spinal muscular atrophy, cystic fibrosis, cailage- hair hypoplasia, and f, - thalassemias, and Bloom syndrome have occurred because of uniparental disomy.
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now