Bloom syndrome

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Introduction

Bloom's syndrome (BS) is a chromosomal instability syndrome characterized by photosensitivity & developmental anomalies.

Pathology

Genetics

Clinical manifestations

Laboratory

Complications

More general terms

References

  1. Ponz de Leon Recent results in cancer res. 136:322 1994
  2. Nelson Textbook of Pediatrics, 14th ed., Behrman et al (eds) WB Saunders, Philadelphia, 1992, pg 1651
  3. 3.0 3.1 ARUP Consult: Jewish Genetic Disease The Physician's Guide to Laboratory Test Selection & Interpretation
    Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
    Ashkenazi Jewish Genetic Diseases Panel https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel

Database