Which of the following is not true regarding Ataxia telangiectasia?
Mutations in 11q gene is implicated
Follows autosomal dominant mode of inheritance
Humoral and cellular immunodeficiency
Linked to adenocarcinomas
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
Genetic and genetic disorders