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Related Experiment Videos

Tetraploid/diploid mosaicism: case report and review of the literature.

Luís Alonso1, Isabel Melaragno, Adriana Bortolai

  • 1Anatomy Division, Morphology Department, São Paulo Federal University-Paulista School of Medicine, São Paulo, Brazil. luisalonso.morf@unifesp.epm.br <luisalonso.morf@unifesp.epm.br>

Annales De Genetique
|April 2, 2003
PubMed
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Tetraploid/diploid mosaicism is a rare chromosomal abnormality. This case study details a girl with this condition, highlighting her failure to thrive and congenital anomalies, and compares her features to other reported cases.

Area of Science:

  • Genetics
  • Human Genetics
  • Developmental Biology

Background:

  • Tetraploid/diploid mosaicism is a rare chromosomal abnormality characterized by the presence of both tetraploid (4n) and diploid (2n) cells.
  • This condition can lead to significant developmental issues and congenital anomalies.

Observation:

  • A female infant presented with failure to thrive and multiple minor anomalies.
  • Karyotype analysis revealed tetraploid/diploid mosaicism.

Findings:

  • The proband's clinical features, including growth retardation and dysmorphic features, were documented.
  • A comparative analysis was performed with 13 previously reported cases of tetraploid/diploid mosaicism.

Implications:

  • This report expands the understanding of the phenotypic spectrum associated with tetraploid/diploid mosaicism.

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  • Further research is needed to elucidate the underlying mechanisms and long-term outcomes of this rare karyotype.