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Related Experiment Videos

Ring chromosome 22: a case report.

C Severien1, S Felix, K Bartholomé

  • 1Universitäts-Kinderklinik, St. Josef-Hospital Bochum.

Klinische Padiatrie
|November 1, 1991
PubMed
Summary
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This case study details a three-year-old girl with ring chromosome 22, highlighting key developmental and physical characteristics. Early intervention may support children with this rare genetic condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Ring chromosome 22 (r(22)) is a rare chromosomal abnormality.
  • Understanding the phenotypic spectrum of r(22) is crucial for clinical management.

Observation:

  • A three-year-old female presented with features of ring chromosome 22.
  • Clinical manifestations included epicanthus, flat nasal bridge, hypertelorism, long eyelashes, lymphedema, hypoplastic toenails, hydrocephalus, and muscular hypotonia.

Findings:

  • The child exhibited delayed speech and language development.
  • Gross motor skills showed delayed onset, with walking beginning at three years of age.

Implications:

  • This case contributes to the understanding of the clinical variability associated with ring chromosome 22.

Related Experiment Videos

  • Highlights the importance of comprehensive developmental assessment in children with chromosomal abnormalities.