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Ring chromosome 9: an atypical case

G Lanzi¹, E Fazzi, P Veggiotti

¹Department of Child Neuropsychiatry, C. Mondino Foundation, Neurological Institute IRCCS, University of Pavia, Italy.

Brain & Development

|May 1, 1996

Summary

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A rare ring chromosome 9 disorder was identified in a child, presenting unique symptoms like corpus callosum hypoplasia and infantile spasms. Reduced interferon alpha levels may explain recurrent infections in this condition.

Area of Science:

Genetics
Pediatrics
Immunology

Background:

Ring chromosome 9 is a rare chromosomal abnormality with limited reported cases.
Understanding its phenotypic variability is crucial for patient management.

Observation:

A 36-month-old child with ring chromosome 9 presented with corpus callosum hypoplasia and infantile periodic spasms.
The patient exhibited reduced leukocyte interferon alpha levels.

Findings:

The identified genetic anomaly, ring chromosome 9, is associated with unique neurological and immunological features.
Reduced interferon alpha synthesis, controlled by a gene on chromosome 9, may underlie recurrent respiratory infections.

Implications:

This case expands the known clinical spectrum of ring chromosome 9.

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Investigating interferon alpha deficiency could offer therapeutic targets for managing infections in affected individuals.