Ataxia telangiectasia is characterised by all of the following except –
Correct Answer: Decreased level of a-fetoprotein
Description: Ans. is 'b' i.e., Decreased levels of a fetoproteins Ataxia telangiectasia o Ataxia Telangiectasia (AT) is an autosomal recessive disorder. o It is due to mutation of AT gene located on chromosome 11. o There is defective DNA repair that results in multiple chromosomal breaks. Clinical manifestations o Present in first decase of life. o Feature are : - i) Oculocutaneous telengiectasia ii)Neurological -4 Ataxia, dysahria, extensor plantar response, myoclonic jerks, areflexia, distal sensory deficity. iii) Immunodeficeincy --) Thymic hypoplasia with cellular and humoral (IgA and IgG2) immunodeficeincy. iv) Recurrent pulmonary infections v) Endocrine disorders ---> Tye I DM vi) Premature aging vii) Malignancies Lymphoma, Hodgkin's disease, acute T cell leukemia, breast cancer. and a-feto protein and carcino-embryonic antigen are increased
Category:
Medicine
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