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Biological Significance of the Bloom's Syndrome Protein

2 Years
55 Years
Not Enrolling
Bloom Syndrome

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Trial Information

Biological Significance of the Bloom's Syndrome Protein

Although an occasional person with BS will be admitted to the hospital for special study
(endocrine evaluation mainly)--two in the last 25 years--the Registry does not develop a
doctor/patient relationship with affected persons. They have their own doctors. We gather
information about the affected persons and publish reports. We also publish reports of
experiments carried out in the research laboratory using BS cells. Because we are a central
repository for information on BS, families or their physicians find contact with us
beneficial, and we provide them with information requested. Sometimes pregnancies at risk
occur, and we have on occasion made cytogenic (chromosome) analysis of cultured cells of
amniotic fluid (the cultures being initiated elsewhere and sent to us for cytogenetic

Although the accessioning of new cases to the Registry was closed in 1991, 4-5 new patients
are referred to us each year, and their clinical courses also are being followed. To date,
the 169 officially registered and 36 additional cases are under our surveillance.

Inclusion Criteria

1. families include those ascertained by physician referral and those families already
accessioned to The Bloom's Syndrome Registry

2. the family has at least one affected member with BS

Type of Study:


Study Design:

Observational Model: Defined Population, Observational Model: Natural History, Time Perspective: Longitudinal, Time Perspective: Retrospective/Prospective


United States: Federal Government

Study ID:




Start Date:

Completion Date:

Related Keywords:

  • Bloom Syndrome
  • Bloom syndrome protein
  • Bloom Syndrome



New York Hospital-Cornell Medical Center New York, New York  10021