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Extra small metacentric chromosome identified as i(18p)
Journal of Medical Genetics
|February 1, 1979
Insights
A rare supernumerary chromosome, identified as i(18p), was diagnosed at birth. This case highlights the associated psychomotor retardation and immunological issues in the first year of life.
Area of Science:
- Genetics
- Immunology
- Developmental Pediatrics
Background:
- Supernumerary chromosomes are rare genetic anomalies.
- Isochromosome 18p, denoted as i(18p), results from an unbalanced rearrangement of chromosome 18.
- Early diagnosis and monitoring are crucial for affected individuals.
Observation:
- A neonate presented with a supernumerary metacentric small chromosome.
- Cytogenetic analysis confirmed the chromosome as i(18p).
- Clinical follow-up from birth to 12 months documented developmental progress.
Findings:
- The case demonstrates the characteristic clinical features of i(18p) syndrome.
- Significant psychomotor retardation was observed during the first year.
- Immunological aspects were monitored, revealing potential immune system involvement.
Implications:
- This case contributes to the understanding of i(18p) genetics and phenotype.
- Highlights the importance of comprehensive clinical and immunological assessment in infants with chromosomal abnormalities.
- Informs genetic counseling and management strategies for families affected by i(18p).
Abstract:
A case of a supernumerary metacentric small chromosome, diagnosed at birth, is described. The cytogenetic findings support its identification as i(18p). The clinical development from birth to 12 months is reported, with particular attention given to the psychomotor retardation and to the immunological aspect.