A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago.
A newborn baby with the unique combination of Down syndrome and persistent truncus arteriosus with interrupted aortic arch is described. The diagnosis of trisomy 21 was assessed 38 years after the patient's death by means of fluorescent in situ hybridization.
Francalanci
P
P
Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy.
Gallo
P
P
Dallapiccola
B
B
Calabrese
G
G
Marino
B
B
D001013:Aorta, Thoracic / Q000002:abnormalities / Q000473:pathology; D002102:Cadaver; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004314:Down Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005453:Fluorescence; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities / Q000473:pathology; D014339:Truncus Arteriosus, Persistent / Q000150:complications / Q000235:genetics* / Q000473:pathology