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Related Experiment Videos

Full trisomy 22 in a newborn infant.

M B Petersen1, M Hansen, B W Djernes

  • 1Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.

Annales De Genetique
|January 1, 1987
PubMed
Summary

Trisomy 22, a rare genetic condition, was identified in a newborn with multiple congenital anomalies. The extra chromosome 22 originated from the mother during meiosis I, leading to the infant's death.

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Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Karyotype analysis is crucial for diagnosing genetic disorders.
  • Trisomy, the presence of an extra chromosome, can lead to significant developmental abnormalities.

Observation:

  • A newborn presented with a constellation of congenital anomalies including dysmorphic facial features (low-set ears, preauricular pits, broad nasal bridge, antimongoloid palpebral fissures, macroglossia, cleft palate, micrognathia), limb abnormalities (clinodactyly, hypoplastic nails, short limbs, sandal gap), and hypoplastic genitalia.
  • The infant also exhibited signs of congenital heart disease.
  • The infant died at 10 weeks of age.

Findings:

  • Karyotype analysis revealed an extra chromosome 22 (47,XY,+22).
  • Non-disjunction studies indicated the extra chromosome was of maternal origin, specifically from meiosis I.

Implications:

  • This case highlights the phenotypic spectrum associated with Trisomy 22.
  • Understanding the origin of nondisjunction events is vital for genetic counseling and recurrence risk assessment.
  • Further research into Trisomy 22 is needed to elucidate its pathogenesis and potential management strategies.

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