Related Experiment Videos
Down syndrome: clinical and cytogenetic analysis.
Irfan Ahmed1, Tariq Ghafoor, Naseer Ahmed Samore
1Department of Paediatrics, Combined Military Hospital, Bahawalpur. drirfanasim@hotmail.com
Summary
This study analyzed clinical features and cytogenetic findings in 295 children with Down syndrome (DS). Most cases (95.6%) showed trisomy 21, with congenital heart disease being a common anomaly.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Down syndrome (DS) is a genetic disorder associated with characteristic clinical features and potential health complications.
- Accurate diagnosis relies on clinical presentation and cytogenetic confirmation.
Purpose of the Study:
- To detail the clinical manifestations and cytogenetic profiles of pediatric patients diagnosed with Down syndrome.
- To correlate maternal age with specific cytogenetic findings in Down syndrome.
Main Methods:
- Observational study conducted at Military Hospital, Rawalpindi, from January 1998 to December 2001.
- Inclusion of 295 children under 18 years clinically diagnosed with DS.
- Data collection on clinical features, associated anomalies, and maternal characteristics.
Main Results:
- Out of 295 children, 295 had confirmed Down syndrome; 95.6% had trisomy 21, 3.7% translocation, and 0.7% mosaic DS.
- Common clinical features included epicanthal folds, flat nasal bridge, and simian crease (>60%). Congenital heart disease occurred in 34.9% of cases.
- Maternal age >35 years was associated with trisomy 21 (56.7%), while younger maternal age (<35 years) was noted in translocation cases (81.8%).
Conclusions:
- The cytogenetic pattern of Down syndrome in this cohort aligns with existing literature.
- Late presentation of DS is attributed to insufficient antenatal screening and neonatal examination.
- Clinical diagnosis of Down syndrome is feasible in the majority of cases based on characteristic features.