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Pathology Cytogenetic Disorders 90bf9588

All are true about chromosomal instability syndrome except-

A
DNA repair defect
B
Autosomal dominant inheritance
C
Increased risk of malignancy
D
Associated immunodeficiency
High-Yield Explanation
Ans. is 'b' i.e., Autosomal dominant inheritanceo Chromosomal instability syndromes are typically transmitted in an autosomal recessive mode of inheritanceChromosome instability syndromeso They are a group of inherited conditions associated with chromosomal instability and breakage. The disorders are characterized by a defect in DNA repair mechanisms or genomic instabilityo Susceptibility to exogenous genotoxic agents such as ultraviolet (UV) light, oxidative stress, and chemical mutagens, can also lead to a variety of nucleotide modifications and DNA strand breakso Patients with these disorders show increased predisposition to cancer.o Another hallmark of these disorders is immunodeficiency, a phenotype caused by an inability to properly repair DNA strand breaks that occur during development of the immune system,o Important chromosomal syndromes are1) Ataxia telangiectasia2) Ataxia telangiectasia-like disorder3) Bloom syndrome4) Fanconi anaemia5) Nijmegen breakage syndrome6) Xeroderma pigmentosum,7) Cockayne's syndrome

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