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Biomedical subjects

B W Richards

Publications and source records attributed to B W Richards.

At least 37 records · Page 2Linked to original sources

XO/XY mosaicism and non-fluorescing Y chromosome in a male.

An adult male of short stature and with underdeveloped external genitalia is described, who carried out a number of sexual assaults on young women. He proved to have XO/XY mosaicism and a non-fluorescing Y chromosome. It was considered to be a terminal deletion on morphological grounds. It is suggested, on the evidence of the small number of XO/XY mosaics examined by appropriate staining methods, that an abnormal Y chromosome, whether terminally deleted or non-fluorescing owing to an altered chemical state, predisposes to anaphase lagging and non-disjunction. Of eleven reported cases of XO/XY mosaicism with a non-fluorescing Y chromosome, this is the fifth of male phenotype. The severe behaviour disturbance of early onset is considered to be probably causally associated with the chromosome anomaly.

Chromosome Deletion↗

Observation on the familial appearance of diseases associated with metabolic disorders of the mother.

The familial appearnace of diseases in which a metabolic disorder of the mother causes foetal damage is examined and illustrated with typical pedigrees. The expected frequencies with which relatives of the probands are at risk are tabulated, and the effect of reduced maternal fertility is discussed. The familial appearance of disease is compared with that produced by maternal--foetal antigenic imcompatibility.

Female↗