DURING the course of a screening program at Cambridge State School and Hospital, a 10-year-old girl with D1 trisomy syndrome was detected. She had survived longer than any previously reported case of this syndrome and shows normal neutrophils and normal concentration of fetal hemoglobin.
Report of a Case
The girl was the product of a full-term uncomplicated pregnancy and was born on Sept 1, 1957. Birth weight was 2,835 gm. The mother remembered having received no x-rays during pregnancy. At the time of delivery, the 30-Year-old mother, the 42-year-old father, and the four siblings were in good health. The child at 6 weeks of age developed congestive heart failure and was treated with digitoxin. A retrograde aortogram demonstrated the presence of a patent ductus arteriosus which was subsequently ligated. Two months later, a large left flank mass was surgically removed and discovered to be a 53 gm polycystic kidney
Marden PM, Yunis JJ. Trisomy D1 in a 10-Year-Old Girl: Normal Neutrophils and Fetal Hemoglobin. Am J Dis Child. 1967;114(6):662–664. doi:10.1001/archpedi.1967.02090270118016
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