Ataxia telangiectasia is characterised by all of the following except -
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
Chronic sinopulmonary disease
Decreased level of a-fetoprotein
Chromosomal breakage
IgA deficiency