Bloom syndrome is a rare autosomal recessive disorder characterised by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait spots. Affected individuals have an increased risk of developing malignancies.
Pathology
There is extreme chromosomal fragility observed in Bloom syndrome which is due to defect in DNA synthesis as a result of DNA ligase I deficiency and affected individuals show extreme hypersensitivity to ultraviolet rays. T-lymphocytes, B-lymphoblastoid and fibroblast cells are particularly affected.
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