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A newborn with trisomy 13 presenting with cloacal exstrophy
Şebnem Kader1, Mehmet Mutlu, Mehmet Sarıaydın
1Division of Neonatology, Department of Pediatrics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. drmehmetmutlu38@hotmail.com.
The Turkish Journal of Pediatrics
|December 23, 2015
Summary
Trisomy 13 syndrome, a rare condition with high mortality, can present with cloacal exstrophy, a severe birth defect. Blood smear analysis of neutrophils may aid in diagnosing this genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Trisomy 13 syndrome is a chromosomal disorder associated with significant congenital anomalies and high mortality.
- Genitourinary malformations are frequent in Trisomy 13, but cloacal exstrophy is exceptionally rare.
- Early and accurate diagnosis is crucial for managing affected newborns.
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