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H Zankl

Publications and source records attributed to H Zankl.

At least 55 records · Page 3Linked to original sources
PubMed1981

Dermatoglyphic peculiarities in Down's syndrome detection of mosaicism and balanced translocation carriers.

The combination of dermatoglyphic patterns and the number and intensity of traits characteristic for Down's syndrome can be statistically expressed by the "Walker" index and the "general" index. More than 96% of a Down's syndrome series and a control series could clearly be separated by the general index. Cytogenetic and dermatoglyphic features were studied in 17 patients with mosaic trisomy 21 and their parents. In the 17 cytogenetically diagnosed patients with mosaic Down's syndrome, a highly significant correlation was observed between the percentage of trisomic cells and the presence of traits characteristic for this syndrome in the dermatoglyphic patterns. The diagnostic problems and the value of dermatoglyphic examination in cases of mosaicism, where the trisomic cell line seems to have disappeared, is discussed. The results of our study also indicate an elevated incidence of a specific dermatoglyphic pattern combination with general index values similar to Down's syndrome in one parent in nearly 20% of Down's syndrome children. The possibility of hidden mosaicism in these parents of Down's syndrome children is discussed. Furthermore, the dermatoglyphic patterns in a large kindred with an inherited 15/21 translocation (21/41 carriers of the balanced translocation; 14/41 chromosomally normal; 6/41 mongoloid members) was analyzed. The data obtained from this translocation family and especially the values obtained in the general index indicate that some dermatoglyphic stigmata are directly associated with the D/21 translocation carrier state and can therefore be used for predicting this state.

Chromosomes, Human, 13-15↗
PubMed1980

Association frequency and silver staining of nucleolus organizing regions in hyperthyroid patients.

The intensity of the silver staining of nucleolus organizing regions (NORs) and the frequency of chromosomal associations were studied before and after antithyroid treatment in seven and eight hyperthyroid patients, respectively. For one patient, the NOR staining was significantly more intense after treatment, while for another the opposite result was found. A higher stainability of chromosome 22 was observed after treatment in six of seven patients. The difference was significant for the group of patients considered as a whole but only for one patient considered separately. Chromosome 22 also showed an increased association frequency. Fro one patient, the number of large associations and the total number of associating chromosomes was also significantly increased after treatment. A decrease of associating chromosomes 14 and 21 such as was reported by Nilsson et al, (1975) after antithyroid treatment could not be found in our sample. The possible reason for this difference are discussed.

Chromosomes, Human↗
PubMed1980

Satellite associations and NOR staining in mitoses of trisomy 21 mosaicism.

The pattern of acrocentric chromosomes was studied in 190 normal and 190 trisomic cells from a patient with trisomy 21 mosaicism. No significant differences were observed in the total numbers of associations, the numbers of mitoses with one, two, or three associations, or the numbers of associations in which more than two acrocentric chromosomes were involved. Nor was the total number of associating acrocentric chromosomes significantly different in the two cell types. The no. 21 chromosomes, however, associated significantly more often in the trisomic cells, while all other acrocentrics showed a somewhat decreased association tendency. The NORs of 20 normal and 20 trisomic cells were silver-stained. One of the three chromosomes 21 was only moderately stained, and one chromosome 14 was less well stained than in the normal cells. This difference was significant according to our estimation of the staining intensity. Since the results do not reflect differences between patients or techniques, they strongly suggest that there are compensatory relationships of gene dosage between the NORs of different types of acrocentric chromosomes.

Chromosomes, Human, 13-15↗
PubMed1980

Dermatoglyphs in carriers of a balanced 15;21 translocation.

Cytogenetic and dermatoglyphic features were studied in a large family with an inherited 15;21 translocation. Of 35 healthy members of the family, 21 carried the translocation chromosome and 14 were chromosomally normal. There were six members with Down's syndrome who had the translocation. Dermatoglyphic studies showed that carriers of this balanced translocation had the following peculiarities significantly more often than the general population. On the hands, they had ulnar loops on the fingertips, symmetrical high terminations of the A line, symmetrical ulnar loops on the hypothenar areas, distal loops in the 3rd interdigital areas, open fields in the 4th interdigital areas, axial triradii in the distal position, and single transverse palmar creases (Sydney lines). On the feet, they had small distal loops on the hallucal area and distal loops in the 4th interdigital areas. The translocation carriers also had significantly more often than non-carrier relatives symmetrical high terminations of the A line, open fields in the 4th interdigital areas, distal axial triradii, and Sydney lines. On the feet, they had small distal loops on the hallucal areas, distal loops in the 4th interdigital areas, and tibial loops on the proximal hypothenar areas. The data obtained from this study, and especially the values of the Walker and general indices, indicate that some of the dermatoglyphic stigmata of Down's syndrome are directly associated with the 15;21 translocation carrier state and can therefore be used for predicting that state.

Chromosomes, Human, 13-15↗
PubMed1979

Quantitative studies on the arrangement of human metaphase chromosomes. VII. The association pattern of acrocentric chromosomes in carriers of Robertsonian translocations and in their relatives with normal karyotypes.

The pattern of association of acrocentric chromosomes was examined in ten and five carriers of a 15/21 and a 13/14 Robertsonian translocation, respectively, and was compared with that of the same numbers of relatives with normal karyotypes. In the carriers of 15/21 translocation, the number of large associations (involving more than two acrocentrics) and the association frequencies for individual acrocentric chromosomes, were significantly higher than in the control group. The mean number of associations of the single homologs of the translocation chromosomes was much higher than that of the other acrocentrics. In the carriers of 13/14 translocations, only the association frequency for chromosome 13 was higher than in the normal relatives. The uninvolved chromosomes homologous to those involved in translocation showed an insignificant increase in associations in comparison with the other acrocentrics. These results suggest that some mechanism within the cells compensates for the effect of missing acrocentrics or of acrocentrics lacking NORs on the number of associations. The possible relations of this phenomenon to the activity of the nucleolus organizing regions are discussed.

Chromosome Banding↗
PubMed1979

Quantitative studies on the arrangement of human metaphase chromosomes. VI. The association pattern of acrocentric chromosomes in patients with trisomy 13.

The association pattern was studied in 1182 mitoses of 21 patients with trisomy 13 and in a control group. In addition, 173 trisomic mitoses were compared with the same number of diploid mitoses in a case of mosaicism. The number of mitoses with associations was no higher in the trisomic cells than in cells with normal karyotypes. Some differences were observed in the frequency of associations per cell and of the types of associations in the patient group and in the trisomic cells of the mosaic case. The number of associations in which more than two acrocentric chromosomes were involved was unexpectedly low in the cells with a supernumerary chromosome 13. The results are interpreted as suggesting the existence of a compensatory mechanism activated by the additional acrocentric chromosome.

Cell Nucleolus↗
PubMed1979

Karyotypic variations in human meningioma cell cultures under different in vitro conditions.

Examined were how changes of the culture medium, cultivating procedure and cultivating time will influence numerical representation of different karyotypes in a total of 27 cell cultures of meningiomas with two or more cytogenetically distinguishable cell lines. It could be shown that in medium I (80% Mc Coy 5 A, 20% fetal calf serum) more cell lines with a higher degree of hypodipoidy occurred than in medium II (50% TC 199, 40% bovine amniotic fluid, 10% calf serum). The number of cells with normal karyotype was higher in cultures which were grown from trypsinized biopsy material in stationary flasks when compared to particle cultures in roller tubes. Cells with a normal karyotype also increased after 1--6 subcultures. By demonstration of SV 40 tumor antigen it could be shown in two cultures that these normal mitoses derived from tumoral and not from stromal tissue.

Antigens, Viral↗
PubMed1979

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.

Abnormalities, Multiple↗
PubMed1978

Are NORs easily translocated to deleted chromosomes?

The karyotype of two human meningiomas are reported in which, besides other aberrations, a deleted chromosome 1 and 6 could be observed. In these chromosomes most of the short arm is missing. After silver staining for the detection of NORs, not only the satellite regions of most of the acrocentric chromosomes were stained but also the deleted ends of chromosomes 1 and 6. Besides other explanations for this unusual NOR-staining, the possibility is discussed that NORs of acrocentric chromosomes are easily translocated to deleted chromosomes.

Cell Nucleolus↗
PubMed1978

Quantitative studies on the arrangement of human metaphase chromosomes. V. The association pattern of acrocentric chromosomes in human meningiomas after the loss of G and D chromosomes.

The association pattern was studied in 2715 mitoses of 90 meningiomas with different numbers of acrocentric chromosomes. In cells with monosomy 22, a significant increase of mitoses with associations was observed in comparison to cells with a normal karyotype. The number of associating acrocentric chromosomes was highly significantly increased. This surplus was not only caused by a highly significant increase of associating G chromosomes but also of D chromosomes. The loss of further acrocentric chromosomes had no significant influence on the number of mitoses with associations or the number of associating chromosomes. Based on the well-known correlations between the nucleolus organization and the association pattern, the results seem to indicate a compensation mechanism among the nucleoles organizing regions (NOR's) which keeps the supply of nucleolar material constant and simultaneously causes a higher association tendency between the remaining acrocentric chromosomes. The increase of associations in the 22 monosomic cells was interpreted as a overcompensation after the loss of only one NOR.

Cell Cycle↗
PubMed1977

Dermatoglyphic patterns in trisomy 8 syndrome.

Up to the present, 38 cases of trisomy 8 have been found. As most of the patients showed mosaicism, the clinical picture is variable and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. We therefore examined the dermatoglyphics of our own case and compared the results with the findings in the other cases reported in the literature, in order to establish a typical dermatoglyphic pattern in trisomy 8 which might be useful in diagnosis. All patients exhibited several unusual dermatoglyphics, including: a low TFRC (x=96.06), high palmar (92.9%) and plantar (100%) pattern intensity, a distally placed axial triradius (62.5%), loop with accessory triradius in an interdigital area (91.7%), thenar (68.2%) and hypothenar (50.0%) patterns, simian crease (47.1%), bilateral arches on the great toes (88.9%) and hallucal-whorl (72.2%). A distinctive feature was the presence of zygodactylous triradii z, z' and z'' (100%) on the soles of the feet, and deep skin furrows on the palms and soles (68.2%). This combination of dermatoglyphic features appears to be characteristic for the trisomy 8 syndrome.

Child, Preschool↗
PubMed1977

[Diagnostic problems in mosaic-Downs-syndrome (author's transl)].

In 14 cytogenetically diagnosed patients with mosaic Down's syndrome a dermatoglyphic examination was performed. A highly significant correlation between the percentage of trisomic cells and the grade of mongoloid stigmata in the dermatoglyphic pattern was observed. In 11 of the 14 patients a second chromosome analysis could be done after different periods. In several cases a very distinct shifting between the normal and the trisomic cell line occurred. In three patients the normal cell line disappeared and in one other patient the trisomic cell line was lost. The diagnostic problems are pointed out which occur by the total loss of trisomic cell lines. The value of dermatoglyphic examinations in such cases is discussed.

Adult↗