[Diaphragmatic defect in trisomy 13].
Congenital diaphragmatic defect is often combined with other malformations that are severe or fatal. The rare finding of a congenital diaphragmatic defect in a newborn with trisomy 13 is reported. The newborn died within 2 days. Postmortem examination showed typical malformations due to trisomy 13 besides a diaphragmatic defect of left retrosternal position. Karyotype revealed a 13/14 translocation of trisomy 13.
D002901:Chromosomes, Human, 13-15; D003964:Diaphragm / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy
Zwerchfelldefekt bei Trisomie 13.