Which of the following is not true regarding Ataxia telangiectasia?
The mode of inheritance in Ataxia telangiectasia is autosomal recessive Ataxia Telangiectasia Gene involved: Mutation in the ATM gene mapped to the long arm of chromosome 11(11q22-23) Defective DNA repair, increased sensitivity to ionizing radiation Hypoplastic thymus Clinical Features : Progressive cerebellar ataxia Oculocutaneous telangiectasias Chronic sinopulmonary disease High incidence of malignancy: adenocarcinomas and lymphoreticular tumors(lymphoma, leukemia, and Hodgkin disease) Humoral and cellular immunodeficiency Raised alpha fetoprotein levels Ref: Nelson textbook of pediatrics 21st edition Pgno: 1117
Mutations in 11q gene is implicated
Follows autosomal dominant mode of inheritance
Humoral and cellular immunodeficiency
Linked to adenocarcinomas
Genetic and genetic disorders