Biomedical subjects
G Schwanitz
Publications and source records attributed to G Schwanitz.
[Pathomorphology and genetics in early pregnancy].
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[Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5].
A family is described with a translocation 3/5 in three generations. Four patients showed the typical symptoms of partial trisomy 3p; for 2 of them a chromosome analysis was possible. Different main symptoms could be demonstrated for the different age-groups. The difficulties in analysing familial translocations and the problems in genetic counseling are discussed.
Klinefelter's syndrome and mitral valve prolapse. an echocardiographic study in twenty-two patients.
It is well known that the incidence of mitral valve prolapse is increased in various hereditary and humoral disorders, particularly in diseases with abnormal collagene structure and metabolism. We consecutively investigated, both clinically and echocardiographically, 22 patients with Klinefelter's syndrome (Mean age: 35 +/- 15.8 years). On clinical examination one third (7 patients) showed clinical signs of connective tissue weakness, 9 patients were obese. In 3 patients without a history of rheumatic fever mitral regurgitation was present. A mid-systolic click was heard in 12 patients, in 8 of them a click-murmur syndrome. Mitral regurgitation has been found in 3 patients. Echocardiographic ally, 12 of 22 patients (55%) revealed mitral valve prolapse which was not correlated with the degree of the chromosomal aberration. The incidence of mitral valve prolapse in an otherwise healthy male population is reported to be approximately 6%. Thus, in Klinefelter's syndrome, the frequency of mitral valve prolapse is found to be markedly increased. Regarding the nosological implications of mitral valve prolapse, it is recommended to thoroughly examine patients cardiologically. Furthermore, since mitral valve prolapse bears a higher risk of malignant cardiac arrhythmias, chest pain and endocarditis, an antiarrhythmic treatment and--if indicated--antibiotic prophylaxis has to be instituted. Those patients also should be advised to adjust their life style appropriately.
[Familial tooth position anomalies in the Orangutang. Orthodontic, cytogenetic and anthropological studies].
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The significance of diagnostic laparotomy in girls with disorders of sexual development.
Chromosomal analyses were performed in 5 patients from 13 days to 16 years of age to clarify intersexual genitalia, disorders of secondary sexual development and growth retardation. Laparotomies were felt to be indicated because of discrepancies in the results of chromosoma analyses, clinical picture and endocrinologic findings. Among others, pure gonadal dysgenesis was found in a patient with karyotype 46 XX, functional ovaries in a chromosomal Turner's syndrome and a Müllerian anlage with two dysgenetic testes in a 45 X/46 XY mosaic. Since gonads with one cell line containing Y-chromosomes carry a high danger of malignant change, they should be removed as early as possible. It is known that disorders of sexual development can be caused by many and various anomalies of the sex chromosomes. Cooperation among endocrinologists, human geneticists and pediatric surgeons is essential for clarification of the diagnosis.
[Ophthalmologic findings in trisomy 18 (Morbus Edwards) (author's transl)].
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[Cytogenetic, gynaecological and sonographic aspects of twin pregnancy with parental Robertsonian translocation 13/14 (author's transl)].
A prenatal chromosome analysis for a parental Robertsonian translocation 13/14 is absolutely imperative. In the present case of a twin pregnancy, it was possible to present the chromosome complement of only one foetus. Since this foetus showed the Robertsonian translocation in the same form as the phenotypically healthy mother, and since the ultrasound findings were normal, it was concluded that foetus I was normal. Further measures for the cytogenetic analysis of foetus II were abandoned after the first amniotic sample could not be analysed. At the time of the amniocentesis this child was retarded when compared to foetus I. Since the life expectancy of a possibly chromosomally unbalanced child is slight, it was not necessary for the parents to take further steps. During the rest of the pregnancy however, this difference in the development of the children evened out unexpectedly and two phenotypically healthy children were born. The implications of a delayed growth rate as an indication of abnormal foetal development are discussed.
[Investigations on the mutagenic and clastogenic activity of resorcin / Cytogenetic findings from different types of human cells (author's transl)].
The suspected clastogenic effect of m-dihydroxybenzene (resorcin), a phenol derivate, was investigated by analyzing 3 different types of human cells. 1. Lymphocyte cultures from blood of healthy blood donors with normal karyotype (46,XY). 2. Lymphocyte cultures from patients with a proved chromosome abnormality (trisomy 21, karyotype: 47, +21). 3. Cultures of amniotic cells with normal karyotype (46, XX and 46, XY). In all three cell systems resorcin induces secondary chromosome aberrations. The amount of cells with aberrations increases with the concentration of the substance and duration of action. The three cell systems tested showed a different sensitivity to resorcin. Lymphocytes with trisomy 21 were more sensitive than the same cell type with a normal karyotype. Both types of lymphocytes were less sensitive to resorcin than amniotic cells. The types of structural chromosome aberrations observed in these investigations as well as the concentration of the test substance, which had to be added to induce a clastogenic effect, demonstrated that resorcin has to be regarded as a weak mutagenic substance.
[Prenatal examinations. Indications and informative value].
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Epstein-Barr virus-positive Burkitt's lymphoma in a German woman during pregnancy.
A fatal case of a Burkitt's lymphoma which occurred in a 34-year-old German woman during pregnancy is described. Nearly all organs showed either diffuse or nodular infiltration by tumor cells. Placenta and fetus were free of detectable tumor tissue. The patient had extremely high antibody titers (1 : 2056), both against Epstein-Barr virus capsid antigen (VCA) and the early antigen complex (EA). Within the tumor cells the Epstein-Barr virus-specific nuclear antigen EBNA and viral DNA was detected. A cell line established from a tumor biopsy displayed a translocation involving chromosomes 2 and 8. The role of Epstein-Barr virus in the development of Burkitt's lymphoma is discussed.
[Chromosome studies in patients with intermittent porphyria].
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Distal 2q duplication: report of two familial cases and an attempt to define a syndrome.
Two cases of partial trisomy 2q are described, both resulting from a balanced translocation in one of the parents. In one case the chromosomes 2 and 11 were involved [paternal karyotype: 46,XY,t(2;11)(q33;q23)]; in the second case, chromosomes 2 and 8 [paternal karyotype: 46,XY, t(2;8(q32;p23)]. When the two patients were compared to the few cases reported in the literature, it was concluded that the associated clinical syndrome is characterized by severe psychomotor retardation and relatively mild abnormalities involving skull and facies.
[Recessive microencephaly linked to the X chromosome].
A family with X-linked recessive microcephaly is reported. As patients there were found 8 men or boys respectively out of 3 generations, all of them being related by their mentally healthy mothers. Besides microcephaly the patients showed growth retardation and obesity. Some of them, in addition, had various anomalies as inguinal or umbilical hernias, cryptorchism, tapering fingers, contractures, deeply rooted thumbs and club-feet. There were no hints for a metabolic defect or a chromosomal aberration. The dermatoglyphics could be investigated in 5 patients and showed in all of them a shifting of the axial triradius into the distal position t'. Comparing the own findings with case reports on X-linked microcephalies, the above mentioned family was found not to correspond to any of these observations. It is assumed that in this family, a new disease has occurred which until now has not yet been described, so that the X-linked microcephalies seem to be a heterogenous group of disease from the genetic point of view.
Double trisomy as a mosaic. Case history (48, XYY, + 21/47,XY, +21) and survey of the literature of mixed autosomal-gonosomal trisomies.
The case of a boy is reported showing the typical symptoms of Down's syndrome, in whom the chromosome analysis revealed a mosaic karyotype: 50% 48,XYY,+21/50% 47,XY,+21. Findings of 92 cases from the literature are summarized to show the frequencies of double gonosome-autosome aneuploidies compared with single trisomies. Referring to the different chromosomes involved, the aneuploid cell formation, the frequencies of combinations, as well as the tendency to mosaic formation are analyzed. The age of parents at the time of birth and the life expectancy are described as well as the clinical symptoms. Theories concerning the origin of double aneuploidies are discussed.
[Partial trisomy 2p due to a familial translocation 2/6. Cytogenetic and clinical case with special reference to ophthalmologic changes].
A translocation 2/6 inherited for 3 generations is described. The propositus, carrier of a partial trisomy 2p, showed multiple morphological anomalies of which microphtalmus and persistance of primary vitreous body were of particular interest. Based on a comparison of this with seven other patients in the literature, the most characteristic clinical symptoms of partial trisomy 2p are concluded to be the following: abundant lanugo at birth, glabella prominence, anteverted nares, dermatoglyphic anomalies, and malformations of the eyes.