Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder.
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The sensitivity of spermatogonia of 101, TPS and CBA inbred mice to induction of chromosome damages by thiophosphamide (thioTEPA) was studied. With respect to sensitivity of bone marrow cells, these strains were ranked as follows: TPS greater than 101 greater than CBA. When used at the dose 2.25 mg/kg i/p thioTEPA induced chromosome damages in 11.4, 11.6 and 6.0% of spermatogonia of TPS, 101 and CBA mice, respectively. Thus, selection which increased sensitivity of bone marrow cells of TPS mice poorly affected germ cells. To obtain more correct estimations of genetically determined mouse strain sensitivity to chemical mutagens, the estimations should be based on frequencies of induced mutations in germ cells. The spectrum of mutations in spermatogonia differs from that in bone marrow cells: the frequencies of isochromatid breaks and symmetrical chromatid exchanges are higher in spermatogonia. This can be due to close situation of homologous chromosomes in interphase nuclei of spermatogonia.
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Specific amplification of a DNA segment of the human ZFY gene by polymerase chain reaction (PCR) was carried out for detection of Y-chromosome specific sequences. When male DNA was used as template for amplification, a single and discrete 530 bp ethidium bromide staining band was observed in agarose gel. Female DNA produced no band. This technique was successfully used in prenatal sexing and for detecting ZFY DNA sequences in five XX males, an XY female, and a female patient with Turner syndrome having mosaicism involving a minute marker chromosome.
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The results of examination of 120 women with spontaneous abortions are presented. The cytogenetic analysis showed that in karyotypes of the patients there are chromosome aberrations of different types: translocations (17.5%), monosomy (13.3%), trisomy (10%), mosaicism (5.8%) and other forms (4.1%). Phenotypic manifestation of chromosome anomalies with spontaneous miscarriages (abortions) is discussed in the work.
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The rat oocytes extracted from the rat ovaries and cultivated for 42-46 hours were compared with ovulated oocytes by the chromosomal aberration rate. The chromosomal aberration rate in the population of "follicular" oocytes was 8.2% on the average whereas in ovulated oocytes, it did not exceed 1.8%. Analysis of the chromosomal aberrations depending on the phase of the estral cycle suggests that the main portion of chromosomal aberrations in cultivated oocytes occurs during the physiological process of follicular atresia.
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Comparison was made between the effectiveness of restrictases inducing double-strand DNA breaks with blunt (Hae III and Eco RV) and cohesive (Hind III and Sal I) ends and that of gamma-radiation on the initiation of chromosome aberrations. The analysis of the spectrum of chromosome aberrations induced in the presence or absence of DNA repair inhibitors, as well as the study of the pattern of cell distribution by the number of DNA breaks per cell showed that the decisive role in the initiation of chromosome mutagenesis is played by the localization of the break in certain sequences of target DNA rather than the type of the break.
A retrospective study of cranial sonograms in infants with autosomal trisomies excluding Down's syndrome was performed. A range of abnormalities was found including structural anomalies, vascular changes and hydrocephalus. Although nonspecific, many of these abnormalities can suggest a specific chromosomal abnormality in the appropriate clinical setting.