Related Experiment Videos
[Diaphragmatic defect in trisomy 13]
Rontgen-Blatter; Zeitschrift Fur Rontgen-Technik Und Medizinisch-Wissenschaftliche Photographie
|May 1, 1986
Summary
This report details a rare case of congenital diaphragmatic defect in a newborn diagnosed with trisomy 13. The infant, who had a diaphragmatic defect and other trisomy 13 malformations, unfortunately, passed away shortly after birth.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Context:
- Congenital diaphragmatic defect (CDD) is a severe birth defect.
- CDD frequently co-occurs with other congenital anomalies.
- Trisomy 13 (Patau syndrome) is a genetic disorder associated with multiple severe malformations.
Purpose:
- To report an extremely rare case of a newborn presenting with both congenital diaphragmatic defect and trisomy 13.
- To document the specific malformations observed in this unique case.
- To highlight the genetic basis, specifically a 13/14 translocation, in this trisomy 13 presentation.
Summary:
- A newborn with trisomy 13, confirmed by karyotype revealing a 13/14 translocation, exhibited a rare congenital diaphragmatic defect.
- The diaphragmatic defect was located in the left retrosternal position.
- The infant succumbed to the combined severe malformations within 48 hours of birth, necessitating a postmortem examination.
Impact:
- This case underscores the critical association between genetic abnormalities like trisomy 13 and complex congenital malformations.
- It emphasizes the poor prognosis for infants with combined CDD and trisomy 13.
- Provides valuable data for understanding the spectrum of developmental abnormalities in chromosomal disorders.