Species-Specific Features of Inter- and Intrapopulation Variation in the Level of Chromosome Instability in Rodents

Studies on the common vole Microtus arvalis revealed a distinct cytogenetic response to the influence of ionizing radiation, a wide range of variation in the group average indices of chromosome instability beyond the zone of technogenic impact, and the influence of natural factors (viral infections and fluctuations of population size) on the frequency of chromosome aberrations. In the northern mole vole Ellobius talpinus, neither the mutagenic effect of ionizing radiation nor interpopulation differences in the level of chromosome aberrations in the absence of anthropogenic impact were detected. Variation of genome instability of the rodents is significantly contributed to by species demography and population cycles.     

Pseudomosaic centric fission of chromosome 4 in amniotic cells

This paper describes a case of pseudomosaic centric fission of chromosome 4 detected in amniotic fluid cell culture. The pregnancy went to term and the newborn had a normal chromosomal constitution.     

Sex chromosome mosaicism not detected at amniocentesis

Amniocentesis was performed because of a fetal abdominal wall defect, and a 45,X karyotype was obtained. A near-normal male infant with no features of Turner syndrome was delivered. The karyotype of the infant was 45,X/46,X, dic(Y)(q11), with each of the cell lines present in approximately 50 per cent of the lymphocytes and fibroblasts examined.     

Prenatal diagnosis and postnatal follow-up of a child with two de novo unrelated balanced reciprocal translocations

Two unrelated, apparently balanced, reciprocal translocations involving chromosomes 3 and 17, and 10 and 15 were found in cultured amniotic fluid cells from a 41-year-old 10-gravida. Chromosome analysis of peripheral blood lymphocytes of both parents revealed normal katryotypes. Post-partum examination of lymphocyte cultures from the proband confirmed the chromosome rearrangements. The child showed normal development during follow-up examinations up to the age of 4 years.     

The preserving of chorionic villi before establishing long-term cell cultures for cytogenetic analysis

The possibility of preserving intact chorionic villi in culture medium for up to 7 days before establishing long-term cultures for prenatal chromosome analysis is demonstrated. The preserving itself had no negative effect on the growth capacity of the mesenchymal cells.     

Cytogenetic prenatal diagnosis and its relative effectiveness in the mersey region and North Wales

The relative effectiveness of cytogenetic prenatal diagnosis in the Mersey Region and North Wales is presented by estimating the percentage detection rates of Down's syndrome annually following amniocentesis from 1978–1984 inclusive. Tables indicating the percentage of screened pregnancies, types of chromosomal aberrations detected and the occurrence of Down's syndrome in mothers in age groups of five-year intervals are also presented. The average prenatal detection rate for Down's syndrome (estimated at the time of birth) was 15–15 per cent over the years 1978–1984 and was above 22 per cent for the last two years when 44–13 per cent of all pregnancies to mothers of 35 years and over were investigated.     

Prenatal diagnosis of 49,XXXYY

The first prenatally diagnosed case of 49,XXXYY is reported. The pathological findings of the fetus included bilateral clinodactyly, decreased carrying angles (OO), and hypertelorism, slightly low set ears and mildly prominent forehead. A minimum of two independent non- disjunctional events are postulated for this polysomy to arise.     

Possible effect of gestational age on the detection of fetal nucleated erythrocytes in maternal blood

Maternal venous blood samples, obtained from six pregnant women, were used as a source of fetal nucleated erythrocytes (NRBC). Fetal cell enrichment was potentiated by flow sorting with the monoclonal antibodies Tf R, Leu-4, and Leu-M3. Single copy Y chromosomal DNA sequences were detected in samples obtained from two women at 11 and 12 weeks' gestation. Y DNA sequences were absent in a subsequent sample from one of these women at 19 weeks and in two other women at 16 and 20 weeks. All four women delivered males. Y DNA sequences were not detected in two women who delivered females. By combining these results with prior data on the detection of Y chromosomal DNA sequences in maternal blood from male-bearing pregnancies, a relationship between gestational age and feta-maternal transfer of NRBC is suggested.     

Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization

A case is presented in which chorionic villus direct preparation and cultured chorionic villus cells revealed a 47,XX, + mar karyotype. The marker was a small metacentric chromosome and appeared to be i(18p)—isochromosome 18p. Follow-up studies in both amniotic fluid and fetal fibroblasts confirmed the karyotype. In order to characterize the marker, a panel of biotinylated DNA probes was used, including a whole chromosome 18 probe, chromosome 18-specific alpha satellite DNA, Yac clones, and a pan-telomeric probe. These studies show that the marker is a monocentric i(18p) in which about 80 per cent of chromosome 18 alpha satellite DNA has been lost.     

Inv dup (15): Prenatal diagnosis and postnatal follow-up

A de novo inv dup (15) was diagnosed at amniocentesis. No physical abnormalities were detected after birth. The boy developed severe mental and motor retardation, which became obvious at 16 months of age.