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Biomedical subjects

W Schnedl

Publications and source records attributed to W Schnedl.

At least 37 records · Page 2Linked to original sources

[Applications and limits of prenatal diagnosis (author's transl)].

By means of antenatal diagnosis mainly chromosome aberrations, malformations and inborn errors of metabolism may be recorded. At present there exist four ways for gaining information on the fetus in a pregnant woman: analysis of the amniotic fluid after amniocentesis, fetoscopy, ultrasound diagnosis and analysis of the maternal serum. Prenatal diagnosis becomes necessary in pregnancies where a child suffering from a severe illness or malformation is to be expected. Only if the disorder can be diagnosed by antenatal diagnosis and its severity justifies abortion prenatal diagnosis is to be carried out. Most cases transferred to antenatal diagnosis are pregnancies of women in advanced age because of the increasing risk of carrying a child with Down's syndrome. Another important group is formed by pregnant women with a previous child with Down's syndrome or another chromosomal disorder.

Adult↗

Preferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15, and the Y by D 287/170.

The utility of a newly synthesized chemical variation of DAPI (4'-6-diamidino-2-phenyl-indole), D 287/170, for differential staining of constitutive heterochromatin in man is demonstrated. Direct staining of human chromosomes with D 287/170 results in brilliant fluorescence of the paracentromeric C-band of chromosome 9, of a proximal short-arm segment of chromosome 15, and of certain heterochromatic regions in the Y. Bright, but less conspicuous fluorescence is occasionally seen at the centromeres of other chromosomes. The staining differentiation obtained by D 287/170 is very distinct, and the intensity of the fluorescent light is unusually high. The new fluorochrome should prove particularly useful for detecting and analyzing human chromosome 9 heterochromatin at various stages of the cell cycle in normal and structurally altered chromosomes.

Chromosomes, Human↗

Differential fluorescent staining of porcine heterochromatin by chromomycin A3/distamycin A/DAPI and D 287/170.

R banding of porcine chromosomes by chromomycin A3 plus distamycin A and DAPI (DA-DAPI) revealed two distinct types of heterochromatin: The GC-rich centromeric heterochromatin of the biarmed autosomes (Nos. 1-12) and of the X chromosome exhibited bright chromomycin A3 fluorescence, while the heterochromatin of the acrocentric chromosomes (Nos. 13-18) stained brightly by DA-DAPI. The latter also fluoresced brightly when stained by D 287/170. In addition, significant fluorescent polymorphism was observed among both acrocentric and metacentric chromosomes.

Animals↗

[Polymorphisms of the human chromosome no. 15 (author's transl)].

The short arm of the human chromosome No. 15 is composed of various heterochromatic regions. By using silver staining, mithramycin, Da-DAPI and quinacrine mustard fluorescence staining at least 5 different regions may be differentiated. All these components show independent heteromorphisms allowing easy individual identification of a given chromosome No. 15. These features may be useful for studies on heredity including affiliation cases.

Chromosomes, Human, 13-15↗

[Cytogenetic findings in habitual abortion. Chromosomal analysis in 123 couples (author's transl)].

From the 1st of April 1974 till the 30th of September 1979 a consecutive series of 123 couples with a history of recurrent abortion was studied cytogenetically with modern banding techniques. 8 chromosomal aberrations were detected (6.5%); 3 women were found to be balanced reciprocal translocation carriers; the karyotype of 3 women and one man showed a pericentric inversion, one women was found to be a mosaic for 46 XX/45 X0. It is concluded from the results of this report that cytogenetic evaluation is indicated in cases of habitual abortion. The expected rate of chromosomal aberrations is especially high in couples with a mixed history of abortions, intrauterine fetal deaths and malformations. In case a chromosomal aberration is detected the patients have to be counselled individually according to the type of anomaly.

Abortion, Habitual↗

Effects of counterstaining with DNA binding drugs on fluorescent banding patterns of human and mammalian chromosomes.

Pairs of fluorescent A-T specific dyes and nonfluorescent agents with similar or complementary base pair binding specificity were used to analyse the extent to which banding patterns in human chromosomes obtained by fluorescent staining can be modified by counterstaining. By testing a variety of different combinations of drugs, essentially three types of alterations were observed. Enhanced contrast of specific heterochromatic regions was obtained with pentamidine, or netropsin, in conjunction with the fluorescent stains Hoechst 33258, DAPI or DIPI, the resulting banding patterns being similar to that reported for distamycin A plus DAPI (DA-DAPI banding [21]. Uniform quenching of Hoechst 33258, DAPI or DIPI fluorescence was induced by counterstaining with stilbamidine or berenil. The combination of echinomycin with DAPI resulted in an improved contrast of DAPI banding on chromosome arms and pale fluorescence on major autosomal C band regions. In addition, a subdivision of the heterochromatic part of the Y chromosome may be discerned by this latter technique.

Animals↗

[Amniocentesis for antenatal diagnosis. A report on an initial series of 180 cases (author's transl)].

The results are presented of amniocentesis for diagnostic genetic purposes in 180 patients. A diagnosis was obtainable in 170 cases (94%). Genetic abnormalities were detected in 11 cases; one patient miscarried 3 days after amniocentesis. Antenatal diagnosis of certain genetic disorders can be considered a routine method nowadays and should be offered to any woman at risk. It therefore seems necessary to supply the practitioners with the relevant information on this topic.

Amniocentesis↗

Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11).

A de novo reciprocal translocation 46,XX,t(3;7)(q21;q11), detected at amniocentesis performed because of advanced maternal age, is presented. Both parents showed a normal karyotype. The girl was delivered and has shown no phenotypic abnormality in the first year after birth. Problems encountered with the prediction of the fetal outcome in balanced structural rearrangements are discussed.

Amniocentesis↗

[Amniocentesis for antenatal diagnosis. A report on an initial series of 180 cases (author's transl)].

The results are presented of amniocentesis for diagnostic genetic purposes in 180 patients. A diagnosis was obtainable in 170 cases (94%). Genetic abnormalities were detected in 11 cases; one patient miscarried 3 days after amniocentesis. Antenatal diagnosis of certain genetic disorders can be considered a routine method nowadays and should be offered to any woman at risk. It therefore seems necessary to supply the practitioners with the relevant information on this topic.

Abortion, Induced↗

Structure and variability of human chromosomes analyzed by recent techniques.

Besides the AT-specific fluorochromes, GC-specific fluorescent antibiotics are now available for chromosomal analysis. Chromosomal bands represent large accumulation of DNA sequences with similar AT:GC ratio. These uniform differences from the mean AT:GC ratio in the bands can be explained only by at least partial repetition of short DNA sequences in these regions. By comparison of various staining techniques more information also on the constitutive heterochromatin in man becomes available. The human NOR region exhibits a complex organization when studied by various base-specific fluorochromes and silver staining. The DNA-specific fluorochromes are also useful tools in cytophotometric DNA measurements.

Adenine↗

The nature of the Ag-staining of nucleolus organizer regions. Electron- and light-microscopic studies on human cells in interphase, mitosis, and meiosis.

Electron micrographs reveal that the Ag-stainable substance is located on the outside of NOR's or around them but not in the chromosomes themselves. In association figures, the Ag-positive material lies between the acrocentric chromosomes. Light-microscopic studies show that the Ag stainability of the nucleolus in interphase is correlated with the function of the NOR, as seen from inactive and activated lymphocytes. Much more Ag-positive material is seen in prophase than in meta- and anaphase. It starts to increase again in late telophase. In male meiosis the NOR's remain Ag-positive until pachytene. First and second metaphase figures are negative. Experiments using RNase, TCA, and trypsin indicate that the Ag-stainable substance is an acidic protein. The precipitation of Ag granules in interphase nuclei seen in the electron microscope is greatest over the fibrillar component of the nucleolus. The most likely interpretation is that the Ag-stainable material is a component of ribonucleic protein accumulating around active NOR's. In mitosis some of this material remains at the NOR's. In first meiosis it is completely removed before diakinesis.

Animals↗

Inheritance of Ag-stainability of nucleolus organizer regions. Investigations in 7 families with trisomy 21.

The Ag-stainability of the nucleolus organizer region (NOR) was studied in the acrocentric chromosomes identified by Q-banding in cultured lymphocytes from seven children with trisomy 21 and their parents. The observed Ag-NOR patterns were in accordance with chromosomal inheritance except for a slight intraindividual variation which might be explained mainly by technical causes. In two cases the meiotic nondisjunction could be attributed to one of the parents, once to the father, and once to the mother. It is concluded that the Ag-stainability of the NORs is in general a heritable characteristic of the acrocentric chromosomes in maximally activated cells as, e.g., cultured lymphocytes. It may reflect individual differences in the amount of rDNA as well as differences in the capacity for NOR activation.

Cell Nucleolus↗

Frequency of Ag-stained nucleolus organizer regions in the acrocentric chromosomes of man.

The Ag-stainability of the nucleolus organizer region (NOR) was studied in the acrocentric chromosomes identified by Q-banding of cultured lymphocytes in 51 karyotypically normal persons (31 males and 20 females). A consistent pattern of Ag-positive NORs was found in each individual. Ninety percent of individuals have a model number of 8--10 Ag-positive NORs per cell. The frequency of Ag-positive NORs is similar in all five acrocentrics. A statistically nonsignificant lower frequency is found in chromosome 22. Ag-negative NORs on both homologues were found in four cases. The observed frequency distribution of individuals with homozygous NOR-positive, heterozygous, and homozygous negative acrocentric chromosomes was in accordance with the Hardy-Weinberg law in all five pairs of the acrocentric chromosomes as well as in total. No sex difference was observed on our material.

Cell Nucleolus↗

Mithramycin and DIPI: a pair of fluorochromes specific for GC-and AT-rich DNA respectively.

The AT specificity of the fluorochromes DIPI and DAPI and the GC specificity of mithramycin are evidenced by observations in human, mouse, and bovine chromosomes. DIPI and DAPI produce a pattern similar to Hoechst 33258 in all three species, whereas mithramycin results in a reverse pattern. The AT-rich centromeric heterochromatin in mouse is brilliantly stained by DIPI or DAPI and remains nearly invisible after mithramycin staining. In the GC-rich centromeric heterochromatin of cattle the opposite behavior is observed.

Animals↗