Bloom syndrome

Definition

Bloom syndrome is a rare inherited disorder characterized primarily by short stature and a predisposition to various types of cancer. It is always associated with a decreased stability in the chromosomes that can be seen by cytogenetic laboratory techniques.

Description

Bloom syndrome (BS) was first described by D. Bloom in 1954. The clinical symptoms of BS include small body size, sun-sensitive skin that is prone to a reddish rash, patchy spots on the skin that are either lighter or darker than the expected skin color, severe immune deficiency, and an enormous predisposition to various types of cancer. The hallmark of the disorder is genetic...

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