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A case of tetrasomy 9p

R Andou1, T Mimaki, T Ogihara

  • 1Department of Pediatrics, Osaka Medical College, Japan.

Acta Paediatrica Japonica : Overseas Edition
|December 1, 1994
PubMed
Summary

This report details a rare case of mosaic 9p tetrasomy, a genetic condition characterized by an extra copy of chromosome 9p. The patient exhibited hypotonia, severe intellectual disability, and distinctive facial features associated with this syndrome.

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Area of Science:

  • Genetics
  • Human Chromosome Abnormalities
  • Developmental Biology

Background:

  • Mosaicism involves the presence of two or more cell populations with different genotypes within an individual.
  • Tetrasomy refers to a condition where there are four copies of a particular chromosome or chromosome segment instead of the usual two.
  • Chromosome 9p tetrasomy is a rare genetic disorder resulting from duplication of the short arm of chromosome 9.

Observation:

  • A case of mosaic 9p tetrasomy (46,XX/47,XX, + dic[9] [q21]) was identified.
  • The patient presented with generalized hypotonia, a condition characterized by decreased muscle tone.
  • Distinctive dysmorphic features characteristic of 9p tetrasomy were observed.

Findings:

  • The genetic analysis revealed a mosaic karyotype with both normal and tetrasomic cell lines for chromosome 9p.
  • Severe mental retardation was a significant clinical manifestation.
  • The specific chromosomal abnormality involved dicentric chromosome 9 material affecting the q21 region.

Implications:

  • This case contributes to the understanding of the phenotypic variability in mosaic 9p tetrasomy.
  • Accurate genetic diagnosis is crucial for genetic counseling and management of affected individuals.
  • Further research into the molecular mechanisms underlying 9p tetrasomy can inform therapeutic strategies.

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