The patient, a 15-year-old girl, is the second oldest known survivor with 18-trisomy. Mosaicism seems unlikely as no normal cells were found in blood and skin cultures. The physical appearance of individuals with 18\ x=r eq-\ trisomy may become less characteristic with survival past the first few months of life.Indi vi dual s with autosomal abnor¬ malities, particularly with 18-tri¬ somy (E syndrome), are almost al¬ ways short-lived. From a study of 101 cases gathered from the literature, Weber and associates1 concluded, "The chance of survival to one month, one year and ten years is 70 per cent, 10 per cent and 1 per cent respectively." Geiser and associates2 in a more recent review showed few pa¬ tients survive past 1 year of age; since then, however, Bargman and Muselés ' have described the condition in an 8-year-old girl.We report the case of a 15-year-old girl because of comparative rarity of the condition in a child of this age.Report of a Case A girl weighing 2,270 gm (5 lb) was born at term in January 1956 to a 45-year-old mother and a 48-year-old father. A spon¬ taneous abortion had occurred between the first and second siblings in a sibship of six. During the seven-year interval between the births of the youngest sibling and the patient, the mother's menstrual cycle was irregular and she was unaware of this lat¬ est pregnancy until quickening occurred.The baby was admitted to hospital at 4 months of age because of nasal obstruction and difficulty in feeding from birth. She appeared dull and her eyes seemed small. At this time she weighed 3,860 gm (8 lb 12 oz) ( < third percentile) and head and chest circumference were both 37 cm.Breathing was noisy due to excess adenoid tissue and small nasal choanae. She was found to have a ventricular septal defect with pulmonary stenosis. Barium swallow showed laxity at the lower end of the esophagus and protrusion of gastric mu¬ cosa into it. Adenoidectomy and dilatation of nasal choanae corrected the nasal ob¬ struction.The infant was again admitted to hospi¬ tal at 9 months of age because of bronchopneumonia and found to be grossly mentally and physically retarded. Her third hospital admission, at 12 years of age, was for medical assessment prior to dental treatment. The patient now weighed 12 kg (27 lb), was 99 cm (3 ft 3 in) tall (both < third percentile) and was unable to sit up. The limb muscles were atrophie and there was a fixed-flexion deformity of the upper extremities at the elbow joints. Her hands were also flexed at the wrist with some degree of ulnar devia¬ tion. Fingers were narrow, tapering, and were not flexed. The legs were thin with in¬ creased muscle tone and both feet had equinovarus deformity (Fig 1, left). Both hips displayed limited abduction. Second¬ ary sexual characteristics were absent and external genitalia were infantile. Her head measured 47 cm and was asymmetrical be¬ cause of a large indentation in the left parietal occipital area. Her ears were lowset and nose beaked. She had random eye¬ ball movements. Both pupils were small, ir¬ r...

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A new recurring chromosome abnormality was identified in 8 of 621 consecutive successfully karyotyped adults with de novo acute leukemia. These eight patients had trisomy 13 as the sole cytogenetic abnormality. On central morphologic review, five cases were classified as subtypes of acute myeloid leukemia, one as acute mixed lymphoid and myeloid leukemia, one as acute lymphoid leukemia, and one as acute undifferentiated leukemia. Blasts of all eight cases expressed one or more myeloid differentiation antigens. Three also expressed T-lineage- associated antigens; however, none of these had rearrangement of the T- cell receptor beta, gamma, or delta genes. Four of six cases tested were TdT positive. All eight patients with trisomy 13 were treated with intensive induction chemotherapy; only three entered a short-lived complete remission. Survival of patients with trisomy 13 ranged from 0.5 to 14.7 months, and was significantly shorter than that of the remaining patients (median 9.5 v 16.2 months, P = .007). We conclude that trisomy 13 is a rare, recurring clonal chromosome abnormality in acute leukemia associated with a poor prognosis. Malignant transformation of an immature hematopoietic precursor cell is suggested by the expression of antigens characteristic of both the myeloid and lymphoid lineage, the high incidence of TdT positivity, and the morphologic heterogeneity in these leukemias.