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Minor abnormalities are described in an 11-month-old female in which a "de novo" trisomy 1q32 leads to lqter and a monosomy 3p25 leads to ter has been produced. The amount of the exceeding material in this case is less than that found in previous reports of partial trisomy 1q and in cases of parental 1q balanced translocations which has originated recurrent abortions.

Cytogenetic studies on lymphocytes from a girl aged 3 years and 10 months revealed revealed a ring chromosome 15. Several banding methods showed the r(15) chromosome not to have any apparent deletion of the long arm. The silver staining technique for nucleolar organizer regions showed an NOR positive region (band p12). In only a few cells was a chromosome 15 missing. The size of the r(15) was found to be constant. Comparison with 11 previous reported cases in the literature shows that the clinical manifestations in the different patients with ring chromosome 15 are constant although not clinically identifiable and it appears likely to attribute them to a significantly retarded intrauterine and postnatal growth instead of presumed deficiency in the long arm and mosaic configurations.

A new case of partial trisomy 3q is reported in a 5-year-old female with severe congenital malformations and psychomotor retardation. A review of the literature, with a total of 11 patients, allows us to conclude that the clinical picture reminiscent of the Cornelia de Lange syndrome is caused by the trisomic state.

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