A new case of terminal deletion lOq26-qter is described. The phenotypic features are compatible with those of the previously reported cases. Deafness is reported for the first time.

Analysis of the karyotype of a sterile 34‐year‐old man, with slight mental retardation and small stature, but without significant dysmorphism, showed the presence of a ring chromosome 15.

A balanced reciprocal translocation t(1;Y) (q11;q11) was found in an infertile man with severe oligoasthenospermia. The same translocation was found in his father. The role of X-chromosome inactivation during meiosis in a male carrying a Y;autosome translocation is discussed.

A tetraploid fetus with an unusual facial appearance and multiple congenital anomalies (large cerebral lateral ventricles; lung, cardiac, and genital abnormalities) is reported. Chromosome analysis was performed on amniocytes and fetal blood lymphocytes. A comparison is made with other reported cases (nine liveborn infants and one 17·2‐week‐old fetus). © 1997 John Wiley & Sons, Ltd.

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