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[Complete trisomy 22]

K Wollina1, J Seidel, M Kirchner

  • 1Universitäts-Kinderklinik Jussuf Ibrahim, Jena.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|March 1, 1993
PubMed
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A rare case of complete trisomy 22 in a young girl is detailed. This genetic condition presented with typical features like Pierre-Robin Sequence and developmental delays, alongside unique symptoms.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • Trisomy 22 is a rare chromosomal abnormality.
  • It is associated with a spectrum of congenital anomalies and developmental issues.

Observation:

  • A 2-year, 6-month-old girl was diagnosed with complete trisomy 22 via G-banding.
  • The patient exhibited Pierre-Robin Sequence, cardiac and renal malformations, craniofacial dysmorphia, and psychomotor retardation.
  • Additional unique findings included tonic-clonic seizures, bilateral elbow dimples, and a clavicular anomaly.

Findings:

  • Confirms the association of complete trisomy 22 with characteristic features.
  • Highlights the phenotypic variability within trisomy 22, noting unusual clinical manifestations.
  • Demonstrates the utility of G-banding in diagnosing chromosomal abnormalities.

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Implications:

  • Contributes to the understanding of the genotype-phenotype correlation in trisomy 22.
  • Informs clinical management and genetic counseling for families affected by trisomy 22.
  • Suggests the need for comprehensive evaluation in cases of trisomy 22 due to potential for diverse symptoms.