We present a case which we believe to be the only recorded example of trisomy for the complete short arm of chromosome 5 (Brimblecombe and Lewis, 1966). The trisomic condition is the consequence of unbalanced segregation of a balanced translocation found in the mother and interpreted as 46,XX,t(5; 15) (pl1; p 12).
Case historyThe proband, Jennifer K, was born normally at term after an uneventful pregnancy, and weighed 2410 g. There was asymmetry of the face, with coloboma of the iris and microphthalmia affecting the left eye. The left ear was downwardly displaced and malformed, with a flattened helix (Fig. 1). Bilateral talipes equinovarus was present. At the age of 5 weeks a successful operation for pyloric stenosis was undertaken.Her developmental progress was retarded so that by the age of 7 months her performance was that normally achieved by an infant of 2 months, and by the age of 30 months she had attained a developmental age of only 12 months. Her weight gain throughout was poor. She died suddenly at the age of 31 months, the cause of death being bronchopneumonia, which was confirmed at necropsy. The only additional abnormality found at this time was a small corpus callosum.
SEPT. 23, 1961 HYPOPHYSECTOMY IN BREAST CANCER BRDICJO7AL93 patients. Preliminary results indicate that the initial high levels (Whitaker, 1960) fall coincident with satisfactory clinical response. Serum phosphohexoseisomerase has also been estimated serially (Boesen, unpublished)
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