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This study reports a rare case of 18p- mosaic syndrome in an infant. Despite a low percentage of abnormal cells, the patient exhibited severe symptoms, highlighting the complexity of this genetic condition.
Area of Science:
- Genetics
- Pediatrics
- Clinical Case Study
Background:
- 18p- syndrome is a rare chromosomal disorder caused by a deletion on the short arm of chromosome 18.
- Mosaicism, where an individual has cell populations with different genetic makeup, can occur in 18p- syndrome.
Observation:
- A 5-month-old male infant presented with intractable seizures and severe ophthalmological abnormalities.
- The infant was diagnosed with 18p- mosaic, with 7-8% abnormal cells in blood and 55% in skin.
- Approximately 35% of the short arm of chromosome 18 was deleted.
Findings:
- This case represents the fifth reported instance of 18p- mosaic.
- The infant displayed a severe clinical phenotype despite a low proportion of abnormal cells in peripheral blood.
- The extent of the deletion on chromosome 18 was relatively small.
Implications:
- This case underscores the significant clinical variability within 18p- mosaic syndrome.
- It suggests that the proportion of abnormal cells in blood may not always correlate with disease severity.
- Further research is needed to understand the genotype-phenotype correlations in 18p- mosaicism.
Abstract:
The case of a 5-month-old male infant with 18p- mosaic, who has intractable seizures and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the 18p- syndrome, is reported. The proportions of abnormal cells are 7-8% in blood and 55% in skin. About 35% of the short arm of chromosome 18 is deleted. to our knowledge the present report is the fifth one of 18p-mosaic. The main interest of this case resides in the fact that it shows a serious clinical picture despite the low proportion of abnormal cells in blood and the small degree of deletion of the short arm of chromosome 18.