[Chromosome anomalies in spontaneously aborted fetuses and a study of mutagenesis in a human population].
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An abnormal fetal karyotype, containing a del 16(q21-qter) as an extra chromosome, was diagnosed in all 14 metaphases examined in a sample of chorionic villous biopsy material. After elective abortion a mosaicism for this cell-line together with a normal one was detected in the chorionic tissue. Fibroblast cultures from several fetal skin biopsies all revealed a normal karyotype.
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Contents of intracellular cAMP and cGMP were studied in cultivated fibroblasts from 4 spontaneous abortuses with trisomy 7 and trisomy 9 as well as in 4 triploid cell strains. Six diploid cell strains from medical abortuses were used as controls. Distinct increase in cAMP content both calculated per I mg of cell protein or per a cell was found in trisomic strains, whereas the cAMP content increase in triploid strains was detected only per a cell. The data obtained suggest that functions of membrane complexes were impaired in the cells with anomalous karyotype.
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Partial trisomy 18 is described in a two month old female with severe mental, motor and growth retardation, associated with multiple congenital anomalies characteristic of complete trisomy 18. Trisomy for almost all of 18q resulted from adjacent I segregation of a paternally inherited translocation t(13; 18)(q32:q11). The balanced translocation was observed in three generations of the family. Partial trisomy 18q identical to that observed in the proband was found in a subsequent miscarriage.
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