Trisomy D1 in a 10-Year-Old Girl

Abstract

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