Terminal 6q27 Microdeletion Syndrome: A Case Report
Maycoll Ferreira Vieira1, Daniela Carvalho2, Filipa Valentim3
1Family Medicine, Madalena's Health Center, Pico Island Health Unit, Madalena, PRT.
Cureus
|December 7, 2022
Summary
A rare genetic disorder, 6q27 microdeletion, was identified in a 10-year-old girl with developmental delays and physical abnormalities. Early diagnosis of this microdeletion is crucial for intervention.
Area of Science:
- Genetics
- Pediatric Neurology
- Developmental Pediatrics
Background:
- Global developmental delay (GDD) encompasses a range of neurodevelopmental disorders affecting cognitive and motor skills.
- Microdeletions, such as terminal 6q27 microdeletion, are rare genetic conditions often associated with significant developmental challenges.
Observation:
- A 10-year-old female presented with GDD, including cognitive impairment and learning difficulties.
- Additional clinical features included scoliosis, behavioral issues (aggressiveness), toe walking, and observed brain malformations.
Findings:
- Genetic analysis revealed a terminal 6q27 microdeletion, a rare chromosomal abnormality.
- This specific microdeletion was confirmed as the likely cause of the patient's complex clinical presentation.
Implications:
- Sharing rare case studies like this enhances medical community awareness of 6q27 microdeletions.
- Facilitating early diagnosis of this rare disorder can lead to timely interventions and improved patient outcomes.
