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Related Concept Videos

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Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Updated: May 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Malformations, genetic abnormalities, and Wilms tumor.

S Dumoucel1, M Gauthier-Villars, D Stoppa-Lyonnet

  • 1Department of Pediatric Oncology, Institut Curie, Paris, France.

Pediatric Blood & Cancer
|August 24, 2013
PubMed
Summary

Wilms tumor (WT) is often linked to malformations and genetic syndromes. Early diagnosis and genetic counseling are crucial for improved patient follow-up and outcomes in these pediatric cancer cases.

Keywords:
WT1Wilms tumorgenetic abnormalityhemihypertrophynephroblastomapredisposition syndrome

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Area of Science:

  • Pediatric Oncology
  • Clinical Genetics

Background:

  • Wilms tumor (WT) can be associated with tumor predisposition syndromes and clinical malformations.
  • These associations require further clinical and molecular genetic characterization.
  • Understanding these links is vital for comprehensive patient management.

Purpose of the Study:

  • To describe clinical malformations, genetic abnormalities, and tumor predisposition syndromes in WT patients.
  • To propose guidelines for clinical and molecular genetic investigations in WT.
  • To enhance the diagnostic and therapeutic pathways for WT.

Main Methods:

  • Retrospective analysis of 295 WT patients treated between 1986 and 2009.
  • Evaluation of clinical abnormalities and identified predisposition syndromes.
  • Correlation of genetic findings with clinical presentation.

Main Results:

  • 17.6% of WT patients exhibited malformations or predisposition syndromes.
  • Common genetic syndromes included WAGR, Denys-Drash, Beckwith-Wiedeman, and Fanconi anemia.
  • Genito-urinary malformations and hemihypertrophy were most frequent; earlier diagnosis in affected children.

Conclusions:

  • The high frequency of malformations in WT necessitates genetic counseling and molecular testing.
  • Genetic insights aid in better patient follow-up and management.
  • A clinical decision tree is proposed to guide genetic explorations.