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.
Insights
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.
Abstract:
A 10-year-old female with a history of global developmental delay (reduced concentration, cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe walking, and brain malformations was observed in the pediatric development outpatient consultation of Hospital de Santo Espírito da Ilha Terceira (HSEIT), Azores, Portugal. A genetic study was carried out and showed a terminal 6q27 microdeletion, a rare disorder. Being so rare, it's important to share with the wider medical community any of such cases so early diagnosis can occur and interventions may be developed.
