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Mild developmental delay due to ring chromosome 19 mosaicism
1Department of Neurology, Birmingham Children's Hospital, UK.
Insights
Supernumerary ring chromosome 19 mosaicism can cause mild developmental delay and dysmorphic features, even when subtle. Genetic analysis is crucial for diagnosis and genetic counseling in affected children.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Mild developmental delay in children often lacks identifiable causes.
- Dysmorphic features are frequently associated with developmental delays but can be subtle.
Observation:
- A 5-year-old girl presented with mild developmental delay and previously unrecognized dysmorphic features.
- Her clinical presentation was linked to supernumerary ring chromosome 19 mosaicism.
Findings:
- Supernumerary ring chromosome 19 mosaicism was identified as the likely etiology for the child's condition.
- The patient's parents had normal chromosomal analyses, indicating a de novo genetic event.
Implications:
- Thorough examination for dysmorphic features is recommended for all children with developmental delay.
- Chromosomal analysis should be considered to identify genetic causes and facilitate genetic counseling, especially when dysmorphic features are not immediately obvious.
Abstract:
Children with mild developmental delay without dysmorphic features do not often have identifiable underlying aetiological factors. We report on a 5-year-old girl with mild developmental delay and dysmorphic features which were previously unrecognized. She was found to have supernumerary ring chromosome 19 mosaicism which was the likely cause of her clinical problems. Her parents' chromosomes were normal. A careful examination for dysmorphic features should be done in all children with developmental delay. However, these may not be readily apparent in babies and very young children. Chromosomal analysis to identify a genetic cause and to offer genetic counselling should be considered in all such children unless the clinician is absolutely certain that there are no dysmorphic features.