Biomedical subjects

C L von Ballestrem

Publications and source records attributed to C L von Ballestrem.

4 recordsLinked to original sources

PubMed1996

Jumping translocation in a phenotypically normal female.

"Jumping translocation" jt refers to a rare type of chromosome mosaic, in which the same portion of a (donor) chromosome is translocated to different (recipient) chromosome sites. Jt have mainly been observed in lymphocyte cultures of patients with hematologic malignancies. We report a phenotypically normal female carrying a mosaic of two cell lines with the Xq26-qter segment translocated to the short arm of chromosomes 15 or 21 in peripheral blood lymphocytes. In skin fibroblasts, only the X/21 translocation was detected. We speculate that recombination between homologous repetitive sequences on non-homologous human acrocentrics may be the cause of such chromosomal rearrangements.

Abnormalities, Multiple↗

PubMed1995

Rearrangement of chromosome 1 is a frequent finding in endometrial carcinoma. An in situ hybridization study in nine endometrial carcinomas.

Nine endometrial carcinomas were examined for numerical aberrations of the chromosomes 1,7, and X by fluorescence in situ hybridization using highly repetitive chromosome-specific probes. In addition, a combination of a centromeric and a telomeric chromosome 1 probe was applied to detect structural chromosome 1 aberrations. Chromosome aberrations were found in six tumors. In four of these, an imbalance between 1q12 and 1p36 was detected, indicating the presence of an extra 1p- chromosome. In regard to the chromosomes 7 and X, monosomies and trisomies were found. Intratumoral genetic heterogeneity in endometrial carcinomas was detectable by FISH and flow cytometry. In conclusion, our findings confirm that chromosome 1 is frequently involved in structural chromosome changes, indicating chromosome 1 to be of importance in the evolution of endometrial carcinoma.

Adenocarcinoma↗

PubMed1994

[Antepartum monitoring and peripartal findings in mono- and dichorial twin pregnancy].

In a group of 65 twin pregnancies the difference of perinatal findings and antepartal test results was evaluated in relation to amnionicity and chorionicity. Monochorionic placentation was found in 33% of the pregnancies. The rate of foetal malformation (11%), neuromuscular dysfunction (6%), perinatal mortality (11%) and duration of neonatal intensive care was increased in those cases. The most useful diagnostic tool was B-Mode-ultrasound (first detection and surveillance of multiple pregnancy, especially diagnosis of inter-twin growth discordancy). Non stress test and Doppler sonography were found to be of value as additional tests for detection of functional differences between both twins. There were no differences between findings in first and second twin as well as between findings in pregnancies with mono- or dichorionic placentation.

Birth Weight↗

PubMed1993

[Evaluation of the antepartum CTG course in cases of highly pathologic Doppler flow findings].

In a group of 79 pregnancies with highly abnormal Doppler-flow findings in foetal vessels the value of antepartal CTG criteria was evaluated in detail. In cases with absent enddiastolic flow (AEDF) the prognostical value was not further increased by antepartal pathological CTG findings. In cases with permanently normal antepartal CTG's, however, foetal outcome was fairly good (median duration of pregnancy 38 + 6 weeks, median foetal birth weight 2,545 grams, arterial pH < 7.20 in 9%). This was true also in the presence of pathological Doppler-flow findings except AEDF. In cases with pathological antepartal CTG findings in the antepartal course of pregnancy the loss of acceleration was most frequent (82%), followed by decreased frequency (53%) or narrowed amplitude (38%) of the foetal heart rate variation. Combination of both methods (Doppler sonography and CTG) is recommended clinically because the rate of uncertain findings can be reduced. Especially in cases with AEDF an active management would be justified before CTG's become pathological.

Aorta↗