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Mild developmental delay due to ring chromosome 19 mosaicism.

I Vaz1, S A Larkins, A Norman

  • 1Department of Neurology, Birmingham Children's Hospital, UK.

Developmental Medicine and Child Neurology
|March 6, 1999
PubMed
Summary

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.

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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.

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  • Chromosomal analysis should be considered to identify genetic causes and facilitate genetic counseling, especially when dysmorphic features are not immediately obvious.