All of the following are chromosomal breakage syndromes except:
Correct Answer: Ehler-Danlos syndrome
Description: Chromosome breakage syndromes Group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. Cells from affected individuals exhibit elevated rates of chromosomal breakage or instability, leading to chromosomal rearrangements. Characterized by a defect in DNA repair mechanisms or genomic instability. Eg: Fanconi anaemia Bloom syndrome Ataxia telangiectasia LIG4 syndrome Nijmegen breakage syndrome. Ehlers-Danlos syndrome (EDS) is Genetic disorder resulting from defective synthesis of fibrillar collagen Not a chromosomal breakage syndrome. Sretchable skin , Extremely fragile Vulnerable to trauma, Joints are hypermobile.
Category:
Pathology
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