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[Pentasomy X: a clinical case report].

S Favetta1, R Artino, G Ponzio

  • 1Divisione di Pediatria, Ospedale Civico di Chivasso, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|September 1, 1992
PubMed
Summary

Pentasomy X, a rare genetic condition, was identified in a young girl with developmental delays. Genetic analysis suggests this occurred due to a maternal meiotic error.

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Area of Science:

  • Genetics
  • Human Biology
  • Developmental Biology

Background:

  • Pentasomy X (49,XXXX) is a rare chromosomal abnormality.
  • It is characterized by the presence of four extra X chromosomes in females.
  • This condition is associated with significant intellectual disability and developmental delays.

Observation:

  • A 3-year-old female presented with typical facies and psychomotor retardation.
  • Cytogenetic analysis revealed pentasomy X (49,XXXX).
  • Her parents and grandparents had normal karyotypes.

Findings:

  • Clinical symptoms included low birth weight, short stature, delayed expressive language, craniofacial abnormalities, and minor limb deformities.
  • Restriction fragment length analysis (RFLAs) using polymorphic probes identified the parental origin of the extra X chromosomes.
  • The findings support a maternal meiotic double non-disjunction event as the cause.

Implications:

  • This case expands the understanding of pentasomy X phenotypes.
  • It highlights the importance of genetic investigations in diagnosing developmental disorders.
  • The study provides evidence for specific mechanisms of chromosomal aneuploidy formation.

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