Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Bloom's syndrome: the German experience.

E Passarge1

  • 1Institut für Humangenetik, Universitätsklinikum Essen, Germany.

Annales De Genetique
|January 1, 1991
PubMed
Summary

Bloom's syndrome patients exhibit characteristic phenotypes and early malignancies. This study highlights pulmonary issues and chemotherapy sensitivity, with genetic recombination potentially explaining disease features.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Multiple Y-chromosomal aberrations in a patient with mixed gonadal dysgenesis of XO/XY Type.

Human genetics·2016
Same author

Sporadic translocation, inversion, and marker chromosome in prenatal diagnosis.

Human genetics·2016
Same author

[TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy].

Klinische Monatsblatter fur Augenheilkunde·2015
Same author

[Enzyme histochemistry of classical and ultrashort Hirschsprung's disease].

Der Pathologe·2007
Same author

[Genetic bases of Hirschsprung's disease].

Der Pathologe·2007
Same author

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).

Journal of medical genetics·2001

Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • Bloom's syndrome is a rare genetic disorder characterized by genomic instability.
  • It is associated with an increased risk of various cancers and distinctive physical features.

Observation:

  • This study describes ten German patients diagnosed with Bloom's syndrome between 1964 and 1986.
  • Seven patients survived into adulthood (8-27 years), while three died between ages 5 and 21 due to leukemia, lymphoma, or pulmonary complications.

Findings:

  • All patients presented with the typical clinical and cellular phenotype of Bloom's syndrome.
  • Key observations include early-onset malignancies, specific behavioral patterns, skin pigmentation changes, pulmonary manifestations, and heightened sensitivity to chemotherapy and radiotherapy.
  • A high rate of somatic recombination is suggested as the underlying genetic mechanism for several disease features.

Implications:

  • The findings underscore the importance of early diagnosis and comprehensive management of Bloom's syndrome, focusing on cancer surveillance and supportive care for pulmonary issues.
  • Further research is needed to explore the potential of bone marrow preservation for autologous transplantation in these patients.
  • Understanding the role of somatic recombination may lead to novel therapeutic strategies for Bloom's syndrome and related genetic instability disorders.

Related Experiment Videos