Mosaic sex cromosome contitution in a patient with klinefelter's syndrome who developed metastatic sarcoma of the lung

Foram estudados citogeneticamente o sarcoma dos pulmöes e os sintomas clínicos da síndrome de "Klinefelter's" em um homem branco de 20 anos de idade. Este paciente mostrou linhas múltiplas de células com constituiçäo cromossômica 49,XXYYY, 48,XXYY, 47XXY e 46,XY em sua primeira amostra de sangue. Na segunda amostra recebida um ano depois ele mostrou somente 49,XXYYY e 48,XXYY. Juntamente com este caso estudo, se apresenta uma revisäo da literatura mostrando anomalias constitucionais para certos neoplasmas humanos

Familial aggregation of cancer in Laredo, Texas: a generally low-risk Mexican-American population.

Genealogies for the Mexican-American city of Laredo, Texas, have been assembled by computer from individual civil and church records of birth, marriage, and death. Documentation is available on vital events in the lives of over 300,000 individuals, about 80% of the city population from 1870-1981. These data were collected to determine the degree to which death from cancer is more clustered in families than would be expected by chance alone; methods specific to this data base have been developed to accomplish this task. A statistically significant excess of familial cancer was observed overall when all cancer sites were pooled, but no evidence was observed for excess familial risk at single sites except for breast cancer and perhaps for ovarian cancer. The excess of breast cancer risk is comparable to that observed in other populations. A few site-combinations manifest excess familial risk, most notably those involving and dominated by breast cancer and certain digestive system sites. We do not confirm the degree of familiarity observed elsewhere for cancers of the lung, colorectum, stomach, or other sites in this generally low-risk population. Even where we find evidence of excess risk, the degree of excess is small and the number of multiply affected families too small to test etiologic models by segregation analysis. The absence of excess familial risk does not appear to be due to inadequate numbers of cases, since breast cancer is familial with no more occurrences in Laredo than other sites. These results differ to some extent from those found in a similar study of Utah Mormons, but it is unclear whether this is because of differences in risk patterns or statistical properties of the analytic methods used in the two studies.

Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.

Two patients with Wilms tumor, iris dysplasia (complete aniridia in one and subtle iris defects in the other), normal karyotypes, and no gene loss demonstrable by enzyme marker and direct DNA analyses are presented. The findings indicate that aniridia and less severe iris defects define a risk for Wilms tumor even in the absence of del (11p13), and that there is as yet no consistent biochemical genetic marker for the aniridia-Wilms tumor association.