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Trisomy 8 mosaicism syndrome.

R M Fineman, R C Ablow, R O Howard

|November 1, 1975

Summary

Trisomy 8 mosaicism syndrome (T8mS) is a distinct clinical entity characterized by extra chromosome 8 material. This condition presents with diverse physical and developmental abnormalities in affected individuals.

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Area of Science:

Genetics
Clinical Medicine
Developmental Biology

Background:

Trisomy 8 is the largest autosome found to be trisomic in liveborn infants.
Trisomy 8 mosaicism syndrome (T8mS) involves individuals with mosaicism for chromosome 8 (T8m) or full trisomy 8 (T8).

Observation:

Common features of T8mS include mental retardation, strabismus, osseous and soft tissue abnormalities, ear and palate deformities, cardiovascular disorders, and characteristic dermatoglyphics.
A recent case report details a young patient with T8m, documenting dense corneal clouding and a novel clavicular deformity.

Findings:

Phenotypic variation is significant in T8mS due to chromosomal mosaicism.
The additional findings in the reported case expand the known constellation of abnormalities associated with T8mS.

Implications:

The consistent phenotypic and cytogenetic findings support T8mS as a distinct clinical entity.
Further research into T8mS can improve diagnosis, understanding of developmental impacts, and patient management.

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