A patient should be screened for Bloom Syndrome if one or more clinical findings are present.
Indicators to screen a patient for Bloom Syndrome:
(1) unexplained intrauterine growth retardation and failure to thrive
(2) person of small, well-proportioned stature with sun-sensitive erythematous skin lesions on the face and hands
(3) excessive numbers of café-au-lait spots, especially when there are areas of hypopigmentation
(4) unexplained immunodeficiency
(5) unexplained impairment of intelligence
(6) person with diabetes mellitus with an onset later than usual for juvenile onset diabetes but sooner than usual for adult onset diabetes
(7) infertile male with unexplained small testis and azoospermia
(8) woman with impaired fertility and premature onset of menopause
(9) patient with a predisposition to benign and/or malignant neoplasms featuring (a) early onset, (b) multiple number and/or (c) multiple kinds
(10) person with a keel-shaped face, small and narrow cranium, malar hypoplasia, nasal prominence, small mandible, and prominent ears
Testing may include:
(1) demonstration of a greatly increased rate of sister-chromatid exchange (SCE)
(2) demonstration of the BLM gene on chromosome 15q26.1
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