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Related Experiment Videos

Trisomy 22: no longer an enigma.

M K Kukolich1, A Kulharya, S M Jalal

  • 1Cytogenetics Laboratory, Texas Genetic Screening and Counseling Services, Denton 76201-2467.

American Journal of Medical Genetics
|December 1, 1989
PubMed
Summary

This case study details a male infant with complete trisomy 22, a rare genetic condition. The infant experienced severe growth and developmental delays, alongside multiple congenital anomalies.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Trisomy 22, a chromosomal abnormality, is characterized by the presence of an extra copy of chromosome 22.
  • This condition is rare and often associated with significant health challenges.

Observation:

  • A live-born male infant presented with 47,XY,+22 karyotype, indicating complete trisomy 22.
  • The infant exhibited severe growth retardation and psychomotor delay from birth.

Findings:

  • Multiple congenital anomalies were observed, including broad nasal bridge, epicanthic folds, micrognathia, long philtrum, cleft palate, microcephaly, low-set ears, heart murmur, genital anomaly, and clinodactyly.
  • Chromosome analysis confirmed complete trisomy 22 in both lymphocyte and fibroblast cultures.

Implications:

  • This case highlights the phenotypic spectrum and severity associated with complete trisomy 22.
  • Understanding the clinical manifestations is crucial for genetic counseling and potential management strategies.

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