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Studies of eight patients with this syndrome confirm the characteristic pattern of abnormalities and the autosomal recessive mode of inheritance. The incidence is estimated to be approximately 1 in 100,000 live births. The liver lesion proved to be variable, with features of progressive parenchymal damage rather than a developmental defect of small bile(More)
Yet another form of tyrosinemia is described, in a young baby who developed metabolic acidosis and ceased to grow when weaned from breast milk onto a higher protein formula. Severe tyrosyluria and mild tyrosinemia cleared on a low-protein diet which also corrected the acidosis. However, restoration of growth required a normal protein intake with very(More)
The expression of the Rh antigen D varies quantitatively and qualitatively (partial D); published information and 15 years' work studying D variants are discussed in this review. D epitopes correspond to the reaction patterns of monoclonal anti-D with partial D antigens. Partial D antigens can be reported in terms of their D epitopes but the epitope profile(More)
The agglutination patterns have been established for the reaction between 29 monoclonal antibodies with specificity for the Rh antigen D and red cells of D categories IIIa, IIIc, IVa, IVb, Va, Vc, VI and VII, which are known to lack certain epitopes on the D polypeptide. Six different agglutination patterns were recognized and interpreted to indicate the(More)
The reaction pattern of monoclonal anti-D with category DII cells differed from those of other category D cells. DII cells express epD1, epD2, epD3, epD5, epD6/7 and epD8 but lack epD4 and a new epitope epD9. The new epitope, epD9, is proposed to explain the failure of some monoclonal anti-D (previously considered to be anti-epD3) to react with DII cells.
Reported here is the first example of a partial D antigen stimulating the production of anti-D: stimulation was of fetal origin. During her second pregnancy, anti-D developed in the serum of a D-negative mother who had received Rh immunoglobulin after the birth of her first D-positive child. Her second baby had moderate neonatal jaundice and was(More)
Of the hypotheses put forward to explain why occasional individuals with two X chromosomes are nonetheless male, the one that has attracted most attention is the possibility that one of the X chromosomes has obtained a small piece of Y chromosome which is sufficient to produce 'maleness'. This hypothesis was based primarily on the observation that in two(More)
A monoclonal antibody, 12E7, raised against lymphocytes from a patient with a T-cell acute lymphocytic leukaemia reacts strongly with cortical thymocytes and, to a lesser extent, with other human cells. The antigen defined by 12E7 is not expressed on mouse or hamster cells; this species specificity allowed us to investigate the genetics of the expression of(More)
Measurements have been made of the number of available sites on 10 examples of red cells in which the only abnormality appeared to be a quantitative reduction in the expression of D (weak D cells); these estimates were carried out using three monoclonal anti-D antibodies, Fog-1, Brad-3 and Los-2. The values varied with the monoclonal antibody that was used(More)