Related Experiment Videos
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.
Insights
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.
- Investigating interferon alpha deficiency could offer therapeutic targets for managing infections in affected individuals.
Abstract:
A new case of ring chromosome 9 in a 36-month-old child is presented. In addition to the pathognomonic features of this rare disorder (only 21 cases reported), our patient presents some peculiarities, such as corpus callosum hypoplasia and epileptic seizures (infantile periodic spasms). We also observed a reduced level of leukocyte interferon alpha whose synthesis is controlled by a gene on chromosome 9 and which could be responsible for the recurrent respiratory tract infections, typical and sometimes fatal in these patients.