A neuroendocrine tumor of the small intestine with a karyotype of 46,XY,t(11;22).

Direct preparations of cells from a neuroendocrine carcinoma of the small intestine reveal a karyotype of 46,XY,t(11;22)(q25;q12). Though only 13 cells could be analyzed from both direct and 24 hour preparations, all revealed the translocation; no normal cell line was seen. The patient had not been treated at the time of biopsy. A similar translocation recently has been reported in a number of cases of Ewing's sarcoma and in peripheral neuroepithelioma. This common occurrence, along with the observation that a rearranged chromosome #22 with breakpoints at q11 or q12 are observed in other neoplasias including leukemia, suggests a possible causative role for these phenomena.

Mosaic variegated trisomy (42,XY/43,XY, + variable) in a male pigtail macaque monkey.

We identified an infant male pigtail macaque monkey with a bizarre karyotype which, to the best of our knowledge, has never before been reported in any species. Examination of 107 nuclei from cultured lymphocytes revealed 81 (75.7%) to be trisomic, but with the supernumerary chromosome varying from cell to cell, trisomy 16 being the most common. A small percentage (11.2%) of the nuclei had a normal 42,XY karyotype, and the balance, with the exception of one apparent monosomic (possibly a technical artifact), had multiple chromosome abnormalities. Examination of cultured skin fibroblasts revealed a similar karyotype. We called this karyotype a mosaic variegated trisomy. At birth, the animal had a cleft lip and palate and situs inversus of the heart. He subsequently showed significant developmental delay and apparent mental retardation. There were no clinical symptoms of hematological malignancy, which often have associated acquired chromosome abnormalities such as those described here. The animal survived for 2 yr and 8 mo under intensive care.

In vivo induction of sister-chromatid exchange in Umbra limi by the insecticides endrin, chlordane, diazinon and guthion.

Central mudminnows, Umbra limi, were exposed to the insecticides endrin, chlordane, diazinon and guthion at concentrations of 5.4 X 10(-12) M to 5.4 X 10(-9) M in the aquaria water. Endrin, chlordane and diazinon caused significant increase in the frequencies of SCE. The results of these tests in part are in contrast to previous work which did not find endrin to be mutagenic. Our results suggest that the in vivo SCE test is an efficacious method of detecting mutagenic pesticides in water.

Pigtailed macaques (Macaca nemestrina) with trisomy X manifest physical and mental retardation.

Three pigtailed macaques (Macaca nemestrina) from a nursery population were predicted to be genetically abnormal based on observations of anatomical and behavioral development. All three exhibited delays in skeletal, visual, intellectual, and social development, suggesting a chromosomal syndrome. Karyotypes showed that two animals were XXX females, and the third was a mosaic XX/XXX female.

The effect of the pesticides, Dexon, Captan and Roundup, on sister-chromatid exchanges in human lymphocytes in vitro.

3 pesticides at varying concentrations were tested for the induction of SCE in human lymphocytes in vitro. The fungicide, Dexon, sodium (4-(dimethylamino)phenyldiazene sulfate, was found to cause the greatest increase in SCE frequency and the response is dose related. The herbicide, Roundup, isopropylamine salt of N-(phosphonomethyl)glycine, had the lest effect on SCE requiring the use of much higher concentrations to produce an effect. Limited results were obtained with the fungicide Captan, cis-N-((trichloromethyl)thio)-4-cyclohexene-1, 2-dicarboximide because of toxic levels of either the fungicide or solvent used.

Ring chromosome 2 in a child with growth failure and few congenital abnormalities.

A ring chromosome 2 mosaic [46,XX/46,XX,r(2)(p25q37)] was found in a newborn female with severe intrauterine growth retardation (IUGR), postnatal growth failure, and a few minor abnormalities. Psychomotor development has been normal to 19 months old. A ring chromosome 2 is present in 77.8% of the nuclei examined and is not found in the parents or a sibling. G- and R-banding reveal the break points to be p25q37. The presence of a normal cell line indicates that the chromosome abnormality arose after conception.