G. L. Terzoli

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An unusual Y chromosome with a primary constriction inside the long-arm heterochromatin was found in the amniocytes of a 38-year-old woman. The same Y chromosome was found in her husband and brother-in-law, thus proving that it was already present in the father. FISH with alphoid DNA showed hybridization signals at the usual position of the Y centromere but(More)
The results of the diagnostic application of first trimester trophoblast sampling in 100 pregnancies are reported in detail. Further improvement of the method for routine, direct chromosome analysis resulted in a technique which proved to be fast, simple, and efficient. We found that short-term incubation of villi permits the application of many(More)
Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be highly efficient, with a diagnostic(More)
A study was done to evaluate the effects of diagnostic ultrasound on sister chromatid exchange (SCE) in first-trimester chorionic villi under controlled technical conditions. Chromosome analysis was performed by the direct method using spontaneous mitoses from the cytotrophoblast layer, and SCE visualization was accomplished by a 72 h treatment with(More)
Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures. We report in detail the series of experiments which led to (1) successful, rapidly growing cell cultures practically free of maternal cell contamination (the use of hormone-supplemented Chang medium greatly increased the growth rate);(2) an(More)
Cytogenetic investigations for diagnostic purposes were performed on 1000 first trimester samples of chorionic villi (CVS) in two laboratories using similar techniques. Fetal karyotyping was the primary indication for CVS in 912 and maternal age was the major indication in 758 of them. The risk category “previous child/fetus with chromosome abnormality”(More)
A 19 years old girl with gonadal dysgenesis and short stature had one giant chromosome formed by two X-chromosomes attached by their short arms 46,X,i dic(X) (p223::p223) A 45,X cell line was present in 40% of cultured lymphocytes but only in 2% of fibroblasts cultured from the right gonad and absent in fibroblasts from the left gonad and skin. The abnormal(More)
A marriage between two first cousins who have the same 2/7 balanced translocation is reported. The chromosome rearrangement was primarily detected in amniotic fluid cells cultured for prenatal chromosome analysis because of advanced maternal age. The translocation was also found in the couple's two normal children and in three other members of the family.(More)
The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diagnoses performed from 1972 to 1980. The(More)