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Related Experiment Videos

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence

L Kobrynski1, D Chitayat, L Zahed

  • 1Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.

American Journal of Medical Genetics
|April 1, 1993
PubMed
Summary
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This study details a rare case of complete trisomy 22 in an infant girl, presenting with hemifacial microsomia and ocular abnormalities. The findings highlight the importance of genetic analysis in diagnosing complex congenital conditions like Golenhar sequence.

Area of Science:

  • Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • Golenhar sequence is a rare congenital condition characterized by specific craniofacial and limb abnormalities.
  • The genetic basis of Golenhar sequence is not fully understood, with various chromosomal abnormalities reported.
  • Comprehensive investigation is crucial for accurate diagnosis and management.

Observation:

  • A case report of an infant girl with complete trisomy 22.
  • The infant presented with left hemifacial microsomia, ear anomaly, and complex limbal and epibulbar choristoma.
  • Trisomy 22 was confirmed through prometaphase chromosome analysis and in situ hybridization.

Findings:

  • This case expands the known spectrum of chromosomal abnormalities associated with Golenhar sequence.

Related Experiment Videos

  • The findings underscore the critical role of chromosome analysis in identifying genetic causes of Golenhar sequence.
  • Detailed ophthalmopathological examination provided insights into the ocular manifestations.

    • Implications:

    • Emphasizes the need for thorough genetic evaluation in infants with suspected Golenhar sequence.
    • Contributes to understanding the genotype-phenotype correlations in trisomy 22.
    • Highlights the importance of multidisciplinary approaches in managing complex pediatric genetic disorders.