Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties
Author Information
Author(s): Hacıhamdioğlu Bülent, Berberoğlu Merih, Şıklar Zeynep, Doğu Figen, Bilir Pelin, Erdeve Şenay Savaş, İkincioğulları Aydan, Öçal Gönül
Primary Institution: Ankara University School of Medicine
Conclusion
The study highlights the importance of recognizing DiGeorge syndrome in patients presenting with psychiatric symptoms and subtle dysmorphic features.
Supporting Evidence
- Both patients presented with attention and learning difficulties before being diagnosed with DiGeorge syndrome.
- Fluorescence in situ hybridization (FISH) confirmed the chromosome 22q11.2 deletion in both patients.
- Patients exhibited mild facial dysmorphism characteristic of DiGeorge syndrome.
Takeaway
This study talks about two boys who had learning and attention problems but were later found to have a genetic condition called DiGeorge syndrome.
Methodology
The study involved clinical assessments, laboratory investigations, and fluorescence in situ hybridization (FISH) analysis for diagnosis.
Limitations
The study is based on only two case reports, which may limit the generalizability of the findings.
Participant Demographics
Two male patients aged 13.6 and 14.2 years, both born to unrelated parents.
Digital Object Identifier (DOI)
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