PubMed Health⌕ Search

Biomedical subjects

U Trautmann

Publications and source records attributed to U Trautmann.

47 records · Page 3Linked to original sources
PubMed1991

Characterization and mapping of microdissected genomic clones from the adenomatous polyposis coli (APC) region.

The gene associated with adenomatous polyposis coli (APC) has been mapped to the long arm of chromosome 5. To saturate the APC region with DNA markers, two independent microdissection libraries with an emphasis on 5q21.2-21.3 and 5q22 have been constructed from GTG-banded human metaphase chromosomes. PCR-amplified insert DNA of the primary amplificate used as a probe in chromosomal in situ suppression (CISS) hybridization of human metaphase spreads revealed region-specific signals at the chromosomal site that was excised for cloning. One hundred forty-two inserts, derived from both libraries, have been characterized in more detail. Deletion mapping analysis was performed with 17 single-copy clones on a hamster-human hybrid cell panel. Seven of these clones were located within two interstitial deletions of 6-8 Mb from APC-affected individuals around chromosome bands 5q21-22. The identification of new microclones mapping into these deletions and their use in isolating YAC clones should contribute to the construction of a contiguous physical map of the APC region.

Adenomatous Polyposis Coli↗
PubMed1991

Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation.

A dysmorphic newborn showed an interstitial deletion of the long arm of a chromosome 16 due to a balanced paternal insertional translocation 46,XY,ins(14;16)(q23;q13q22). The insertion was confirmed by chromosomal in situ suppression (CISS-) hybridization. Clinical features considered to be typical for a 16q- phenotype are demonstrated in this patient. Similar observations described in the literature are compared and discussed with reference to the phenocritical region.

Chromosome Deletion↗
PubMed1991

Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report.

In a mentally retarded female an interstitial deletion of a chromosome 9 and an additional ring chromosome was shown, which by positive hybridisation with a no 9 library was considered to be the excised segment. The functional centromere and C and DA/DAPI positive material as well on the ring chromosome are explained by a break within the centromere close to the constitutive heterochromatin and supports the hypothesis of "latent" centromere(s).

Chromosome Deletion↗
PubMed1981

[The analysis of chromosomes today: aspects of the technic with indications and importance of the method].

0.5 to 1% of all newborn possess a chromosomal aberration. In a growing number of neoplasias chromosomal disturbances become known. 10 years after the introduction of the band technique into cytogenetics this method must be regarded as most essential progress in the description of chromosomes. Apart from the exact identification of each individual chromosome the band technique allows the exact establishment of fraction points and gives the possibility of new progress in the gene tabulation. With the help of instances some of these possibilities are demonstrated. Prerequisite for the effective use of the analysis of chromosomes is a strong indication. An indication catalogue concerning the clinical application of the method summarizes the essential problems from paediatrics, gynaecology and internal medicine.

Amenorrhea↗
PubMed1977

[Oxytocinergic exohypothalamic connections to the medulla oblongata in the pigeon and rat].

The neurosecretory hypothalamo-hindbrain connection of lower vertebrates is also present in the pigeon and the rat. By means of the immunohistochemical technique and the pseudoisocyanine technique these fibres could be seen following known pathways through the mesencephalic reticular formation to the hindbrain. Here the fibres enter the region of the dorsal columns nuclei. The neurophysine vesicles demonstrable electronmicroscopically in these fibres are identical with the well known neurophysine vesicles which are present in the neurohypophysis of the investigated species. The content of the vesicles is indeed neurophysine as proved with the method by NAUMANN and STERBA [1]. The terminals of the fibres form neuro-neuronal synapses.

Animals↗
PubMedDate not supplied

[13q syndrome--partial monosomy of the long arm of chromosome 13].

Examination of spontaneous abortions often reveals deletion 13q-. The authors report on a case of de novo deletion in a female newborn with karyotype 46,XX,del (13) (q33) and discuss the problems of the mapping of clinical syndromes. The critical part of the 13q- syndrome is presumably the band 13q33 and/or 13q34. In clinically suspicious cases chromosome visualization should be done with reliable methods (R-banding) in order to detect even very small defects. The gene localisation of esterase D is obviously proximal of the terminal part of chromosome 13.

Abortion, Spontaneous↗
PubMedDate not supplied

The cytogenetic view of standard comparative genomic hybridization (CGH): deletions of 20q in human leukemia as a measure of the sensitivity of the technique.

BACKGROUND: The limits of the resolving power of comparative genomic hybridization (CGH) have been given as 10-20 Mbp if at least 50% of the studied neoplastic cell population carried the corresponding aberration. MATERIAL AND METHODS: Genomic DNA of five cases of hematologic neoplasias, in all of which--among other anomalies--deletions of different size of chromosome 20q were found by GTG banding and confirmed by FISH analyses, was subjected to CGH. RESULTS: CGH revealed four types of del(20q), and, in addition, detected a tiny terminal del(3p) in one of the cases. The size of the smallest deleted segment, clearly visible by eye on the CGH metaphase image, was estimated to range between 5 and 7 Mbp. CONCLUSION: Visual determination was shown to have a stronger resolving power in CGH than software used for the analysis in one case, while in another one, the results obtained from the ratio profiles would have been considered insignificant without the knowledge of the hybridization pattern on the corresponding CGH metaphase images. The potential of the standard CGH technique not only to detect, but visualize small segmental aneusomies as well, suggests that its resolution actually mirrors the resolution of banding techniques.

Cell Nucleus↗
PubMedDate not supplied

Chromosomal heterogeneity of aneuploid leukemic cell populations detected by conventional karyotyping and by fluorescence in situ hybridization (FISH).

Beside the frequent aneusomies of chromosomes # 7 and # 8 gains or losses of several other chromosomes are found in bone marrow cells of leukemia patients. Chromosomal heterogeneity of interphase cell populations was studied by fluorescence in situ hybridization (FISH) with centromeric DNA probes for chromosomes #2, #3, #4, #6, #9, #11, #12, #15, #16, #17, #18, #20, as well as X and Y which were found to be aberrant by routine karyotyping of 28 cases of various malignant hematopoietic diseases. Particularly, the data obtained by both routes of analysis were compared quantitatively. As the most prominent result, all aberrations found by classical karyotyping were redetected by interphase cytogenetics, but additional aberrant clones could be observed among the interphase cell populations. The frequencies of the cell clones with hypersomies were in general higher in metaphase than in interphase, and, vice versa, monosomic cells were found more frequently in interphase than in metaphase. Single aberrant karyotypes in all cases were redetected as microclones of interphase cells. Interphase cytogenetics using FISH, therefore, was shown not only to be a reliable measure of the genomic heterogeneity of leukemic cell populations but, in addition, to be a valuable and informative supplement to routine leukemia cytogenetics with regard to the detection of microclones which, later on, could dominate the progression of the malignant disease.

Adolescent↗