Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.
A two-year-old child who had had palliative surgery as a neonate for an absent right atrioventricular connection and double-inlet ventricle was shown to be developmentally retarded. Trisomy for the short arm of chromosome 8 was demonstrated, resulting from a familial 8:13 translocation, with a high risk of recurrence. Although the specific features of this case are unique, it illustrates the importance of chromosome analysis in any dysmorphic infant whose heart defect places prolonged survival in doubt.
D006328:Cardiac Catheterization; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006325:Heart Atria / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics*; D006352:Heart Ventricles / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D009634:Noonan Syndrome / Q000473:pathology; D014178:Translocation, Genetic; D014314:Trisomy