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Three related new cases with almost complete trisomy 11p due to paternal balanced translocation 46, XY, t(7; 11) (q36.1; p11.1) are reported. The proband (Case 1) was a malformed stillborn with exomphalos, case 2 was diagnosed in the first trimester by direct chromosome preparations from chorionic villi, and confirmed on fetal products after termination of pregnancy. Case 3, a cousin to cases 1 and 2, was a 29-weeks-old fetus with omphalocele discovered at ultrasound. Literature reports of trisomy 11p are reviewed with regard to those new cases, and the possible relationship of this chromosome imbalance with the Beckwith-Wiedemann Syndrome is discussed.

The present work studied the importance of allergy in a population of 41 asthmatics in Benin, using specific IgE measurement by RAST. Specific serum IgE to different allergens has been found in 80% of all cases. Reactions were frequently positive when grass pollens were used and more than half of the patients were sensitive to mites. Standard commercial reagents were used for the tests. Africa-specific allergens were not used in the study, but it is probable that in Western Africa the same allergens as in Europe man be found, or at least those with common allergenic determinants.

Cultured fibroblasts from two sibs with generalized hypertonia, hepatosplenomegaly, and psychomotor retardation within the first year of life were found to have unusual morphologic features. When examined by phase microscopy, the unstained and unfixed cells contained a large number of vacuolated structures whose gross appearance resembled that of a honeycomb in the cell cytoplasm. Electron microscopy studies, following fixation, showed the "honeycombing" to be the result of numerous, closely packed, cytoplasmic, membrane-bound vacuoles. In some of these structures the remains of fibrilogranular material could be detected. Biochemical analysis of crude sonicates of these cells revealed increased levels (4--7 x N) of an acid soluble component that reacted with thiobarbituric acid. Analysis of trimethylsilyl derivatives of this material by gas liquid chromatography and mass spectrometry showed it to be indistinguishable from sialic acid (N-acetylneuraminic acid). Quantitation of this material from the cells of one of the sibs after isolation on a Dowex column yielded 39.8 nmoles of free (unbound) sialic acid per mg protein whereas normal fibroblasts had 1--2 nmoles per mg. Bound sialic acid levels were at the upper limits of normal (24.8 versus 11--23 nmoles per mg protein). The concentration of cytidine monophosphate-sialic acid was normal. After incubation of the patient's fibroblasts with [3H]-N-acetylmannosamine for 72 h, there was a 7-fold increase (compared to normal fibroblasts) in the amount of radioactivity in free sialic acid present in the acid soluble fraction. The amount of labeled, bound sialic acid in the acid-insoluble pool, however, was the same in both patient and control fibroblasts.

Fanconi's anaemia is reported in 2 siblings. The simultaneous onset of pancytopenia after possible exposure to common external agents suggest that both a frail genotype and environmental factors may be etiologically involved in the disorder. One of the children died after having developed a monoblastic leukaemia. This patient disclosed very striking cytological abnormalities, including a dyserythropoietic pattern and ropalocytosis. The physiopathology of the latter abnormality, which has hitherto not been noticed in Fanconi's anaemia, is uncertain.