During a chromosome survey of mentally retarded children with epicanthic folds, an 8-yearold girl was found to have an extra medium-sized, satellited, acrocentric chromosome in a percentage of cells in peripheral blood, bone marrow, and skin. However, she did not show any of the clinical abnormalities associated with D-trisomy (Patau et al, 1960). Therefore clinical and cytogenetic studies together with special investigations performed on this child are described.Case Report The proposita J.M. was born on 21 June 1960 by a breech delivery, to a 38-year-old mother and a 46-yearold father, who were unrelated. Her birth weight was 3040 g. Apart from an early threatened miscarriage treated with progesterone, the pregnancy was normal.Clinical examination of the proposita at the age of 8 years showed profound mental retardation, epicanthic folds, and a mild degree of microcephaly (Fig. 1). On psychological testing she was found to be hyperactive and to have an IQ below 20. Radiology of the skull was normal. The Guthrie test for phenylketonuria and urine amino-acid chromatography were negative. The red cell phosphohexokinase level was within the normal range, ie, 16-9-24-6 micromoles ofsubstrate/min/3-2 g Hb (Baikie et al, 1965). Abnormal projections from the nuclei of the polymorphonuclear leucocytes as described in D-trisomy by Huehns, Lutzner, and Hecht (1964b) were not present.Fetal haemoglobin, estimated when the proposita was aged 7 years, was found to be 9 3O% by the alkali denaturation method (Singer, Chernoff, and Singer, 1951) and, at the same time using the acid-elution technique of Kleihauer, Braun, and Betke (1957), 55% of the erythrocytes were shown to contain some fetal haemoglobin. However, subsequent tests by alkali denaturation in the same laboratory over a period of 3 years showed wide variation even in replicates. The measurement had a