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[Ring chromosome 4 in twins].

L Giuffrè1, M Cammarata, G Corsello

  • 1Clinica Pediatrica B, Università di Palermo, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|May 1, 1987
PubMed
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This study details a rare case of ring chromosome 4 in an infant with severe developmental delays and distinct facial features. The child exhibited a unique presentation, differing from typical Wolf syndrome characteristics.

Area of Science:

  • Genetics
  • Clinical Medicine
  • Pediatrics

Background:

  • Ring chromosome 4 is a rare chromosomal abnormality.
  • It is associated with a range of developmental and physical anomalies.
  • The Wolf syndrome is a genetic disorder characterized by specific physical and intellectual impairments.

Observation:

  • A case study of an eleven-month-old male infant with ring chromosome 4 is presented.
  • The infant exhibited severe mental retardation, microcephaly, and craniofacial anomalies.
  • Karyotype analysis confirmed the presence of r(4) (p16----q35).

Findings:

  • The patient's phenotype showed only a few features typically associated with Wolf syndrome.
  • This presentation is atypical compared to other reported cases with similar karyotypes.

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  • The specific breakpoints on chromosome 4 may influence the clinical manifestation.

    • Implications:

    • This case highlights the variability in phenotypic expression of ring chromosome 4.
    • Further research is needed to understand the genotype-phenotype correlations in ring chromosome abnormalities.
    • Understanding these variations can improve genetic counseling and diagnostic approaches for affected families.