Trisomy 16 is thought to be incompatible with fetal survival. A boy with mosaic trisomy 16 who lived for 11 weeks is reported. Chromosome analysis was carried out on skin fibroblasts grown during life and confirmed on samples taken at necropsy. We believe that this is the first report of mosaic trisomy 16 that has been confirmed by cytogenetic banding. The baby required ventilatory support for the first three weeks because of respiratory distress, and was then maintained with oxygen given by headbox for a further three weeks. The respiratory insufficiency was thought to be caused by restriction from kyphoscoliosis. A ventilationperfusion lung scan carried out at 8 weeks showed equal ventilation bilaterally, but with reduced ventilation in the upper zones. There was a discrepancy between ventilation and perfusion in the right upper zone, which was underperfosed.A loud pulmonary second sound and forceful left parasternal impulse were noted at birth; a pansystolic murmur was audible at the lower left sternal edge from 4 weeks. An echocardiogram showed a small perimembranous ventricular septal defect, which seemed to be closing by apposition of the tricuspid valve tissue.
To the Editor.—
With regard to the diagnosis of cow's milk protein intolerance, we were interested by the findings of Kahn et al (Pediatrics 1985;76:880-884) and Dr Lecks' subsequent comments (Pediatrics 1986;78:378). A hitherto undescribed clinical feature that may contribute to the establishment of this diagnosis is the presence of hyperemia of the rectal mucosa in affected infants. Proctoscopy may readily be performed using a lubricated pediatric otoscope. The procedure is well tolerated, inexpensive, and takes only a few seconds.
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