Bloom syndrome
Bloom syndrome
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Osteogenesis imperfecta
Marfan syndrome
Vitamin C deficiency
Peroxisomal disorders: Pathology review
Nuclear structure
DNA structure
Transcription of DNA
Translation of mRNA
Gene regulation
Epigenetics
Amino acids and protein folding
Protein structure and synthesis
Nucleotide metabolism
DNA replication
Lac operon
DNA damage and repair
Cell cycle
Mitosis and meiosis
DNA mutations
Lesch-Nyhan syndrome
Orotic aciduria
Adenosine deaminase deficiency
Xeroderma pigmentosum
Li-Fraumeni syndrome
Bloom syndrome
Fanconi anemia
McCune-Albright syndrome
Acute radiation syndrome
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Polymerase chain reaction (PCR) and reverse-transcriptase PCR (RT-PCR)
Gel electrophoresis and genetic testing
ELISA (Enzyme-linked immunosorbent assay)
Karyotyping
DNA cloning
Fluorescence in situ hybridization
Flashcards
Bloom syndrome
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Key Takeaways
Bloom syndrome is a rare autosomal recessive genetic disorder caused by a mutation in the BLM gene. It is characterized by small stature, a distinctive facial appearance, immunodeficiency, and increased susceptibility to cancer. Most people with Bloom syndrome die in their early twenties, usually from cancer or respiratory problems.