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A Rodewald

Publications and source records attributed to A Rodewald.

At least 19 recordsLinked to original sources
PubMed1995

HP and GC subtype distribution in the !Kung San and Kavango in Namibia.

The distribution of the HP and GC serum protein polymorphisms in the !Kung San and Kavango (Bantu) populations in Namibia were examined. The obtained allele frequencies of GC marker system were very similar in both populations (GC*1F approximately equal to 0.80, GC*2 approximately equal to 0.10), while the distributions of the HP subtypes in the !Kung San sample (HP*1F = 0.0967, HP*1S = -.1452, HP*2FS = 0.7581) differed markedly from those in the Kavango one (HP*1F = 0.3791, HP*1S = 0.2375, HP*2S = 0.375). These results confirm previously reported allelic distributions in ethnically similar populations.

Adult↗
PubMed1994

Dermatoglyphic peculiarities in patients with Williams-Beuren syndrome.

The dermatoglyphic patterns of fingertips and palms of 115 patients with Williams-Beuren syndrome (WBS) were analysed and compared with the data from 199 control individuals from Germany. The following combination of dermatoglyphic patterns appears to be characteristic to WBS: an excess of whorls on all fingertips; high termination values of the main lines D, B, and A; frequent absence of C triradius (C0); high frequencies of ulnar loops on the hypothenar and distal loops on the 2nd, 3rd, and 4th interdigital areas, of distal axial triradii t", and of abnormal palmar creases such as simian crease and Sydney lines. The combination of fingertip and palmar patterns expressed by a "Log.Score-Index," provides a high degree of discrimination between the WBS patients (92%) and the control group (88%). A "phantom picture" for WBS was constructed, which can be used for its diagnosis.

Abnormalities, Multiple↗
PubMed1993

Cytogenetic survey of 32 cancers of the prostate.

Cytogenetic studies after short-term culture were performed on 32 adenocarcinomas of the prostate from patients without prior treatment. The tumor specimens, ranging from stage B1 to D1, were obtained by radical prostatectomy or diagnostic biopsies. Fourteen tumors showed a normal diploid chromosome complement in all metaphases examined. Clonal chromosomal alterations were detected in 16 tumor samples and the remaining two cases contained double minute (dmin) chromosomes in some cells. The most frequent numerical changes included loss the Y chromosome and trisomy 7, both found in four cases. The only recurrent structural aberration was del(10)(q24), seen in three cases both as a sole anomaly and within multiple rearrangements. Six patients showed cytogenetically unrelated clones. The occurrence of the chromosomal changes found in this study shows no relationship to certain histopathologic characteristics of the tumors. The recurrent finding of del(10)(q24) as sole anomaly and the evidence for clonal evolution in one patient demonstrates that this change is an early karyotypic event which may be important for the pathogenesis in at least a subset of prostatic cancers.

Chromosome Aberrations↗
PubMed1993

Dermatoglyphics in type 1 diabetes mellitus.

Although fingerprints and handprints are widely used in criminology, it is only recently that this approach has been applied to the field of medical and genetic diagnoses. In order to investigate dermatoglyphics in Type 1 diabetes mellitus, quantitative characteristics of fingers and palms (ridge count and main line indices) as well as qualitative parameters such as digital and interdigital patterns, the position of the palmar axial triradii and main line courses were analysed in 88 male and 108 female Type 1 diabetic patients and compared with data from 100 male and 99 female normal controls. Type 1 diabetic patients show a lower third finger ridge count (p < 0.05) and a-b ridge count (p < 0.001) and higher transversality of the main lines as indicated by the main line index value (p < 0.001) or the ending of the main line A in a specific sector 5, 5', and 5" (p < 0.001) compared with controls. In addition, diabetic patients show higher frequency of palmar axial t' and t" triradii (p < 0.001) and a lower frequency of 'true' patterns in the fourth interdigital and thenar area (p < 0.001) than controls. By multivariate analysis of quantitative and qualitative variables a predictive value of 78.6% and 77.3%, respectively, for male, and 81.4% and 82.2%, respectively, for female Type 1 diabetic patients was found. In conclusion, dermatoglyphics seem to be an interesting tool for genetic studies related to Type 1 diabetes.

Dermatoglyphics↗
PubMed1991

[Quantitative dermatoglyphic markers in fra-X-syndrome].

Quantitative dermatoglyphic characters of fingers and palms of 61 male patients with fra-X-syndrome and 20 female heterozygote carriers were analysed and compared with the data from 84 male and 90 female normal individuals. Univariate and multivariate analysis of the data led to the following conclusions: 1. The fra-X-syndrome patients show higher ridge count and higher MLI value (increased transversality of the main lines), and lower a-b ridge counts than the controls. In addition to this, differences are observed also for the diversity and asymmetry measures. 2. Discriminant analysis as applied to the sexes separately, showed that 75% of males can be correctly classified in their group. However, the percent of correctly classified females is lower than the males; it is 70% (fra-X female) ad 64.4% (control female). 3. D2-matrix and the comparison of TFR C values support the hypothesis of X-chromosomal doses effect on the dermatoglyphics.

Adult↗
PubMed1988

Genetic transferrin types and iron-binding: a comparative study of a European and an African population sample.

Two population samples, one from Europe and one from Africa, were analyzed for the distribution of genetic transferrin (TF) types, serum concentrations of TF, serum iron concentrations and free iron-binding capacities. In Europeans the distribution of the TF alleles was C1 = 0.816, C2 = 0.143, C3 = 0.037, and B2 = 0.004. In black Africans the allele frequencies were: C1, 0.823; C2, 0.104; and D1 = 0.073; TFC3 was absent. The mean serum concentrations were 362 +/- 88 mg/dl in Europeans and 528 +/- 176 mg/dl in Africans; this difference was statistically significant. The concentration of serum immunoglobulins was also elevated in black Africans although their health was reported to be normal. The serum iron concentrations in Africans were decreased; the free iron-binding capacity of TF was, thus, increased. In both population samples there was a tendency for slightly higher TF concentrations in the TF C1 subtype than the TF C2 subtype. This correlation was not statistically significant. Analysis of a larger sample is required to establish this relationship.

Alleles↗
PubMed1986

Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study.

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X-linked mental retardation and fra-Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 male and 200 female control individuals. The results show that there is a strong association between the fra-X-syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra-X-syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a-b RC, absence of c-triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra-Xq27 also. The combination of palmar and plantar patterns, expressed by a "log. score-Index", provides a high degree of discrimination between the male patients with fra-X-syndrome and the control group. A preliminary log. score-Index was developed also for the female heterozygotes. A "phantom picture" of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra-Xq27-syndrome can be useful for predicting this state and for diagnosing male hemizygotes and carrier females.

Adolescent↗
PubMed1982

Interstitial de novo deletion of the long arm of chromosome 5: mapping of 5q bands associated with particular malformations.

A new case of interstitial deletion of the long arm of one chromosome No. 5 (q13 leads to q22) is described. The girl shows mental retardation, severe hypotonia, dysmorphic facies and peculiar dermatoglyphics. The relationship between partial trisomies and partial monosomies of 5q chromosomal segments and associated clinical features is discussed. It seems possible to draw a rough phenotypic map of the long arm of chromosome 5 (5q), correlating observed malformations and phenotypic features with specific chromosomal regions.

Abnormalities, Multiple↗
PubMed1982

Dermatoglyphics findings in families with X-linked hypohidrotic(or anhidrotic) ectodermal dysplasia(HED).

Data from finger, palmar, and plantar prints of 8 males with X-linked hypohidrotic ectodermal dysplasia(HED), 8 carrier mothers, 7 sisters, and 1 carrier grandmother are compared with data from 552 controls. The patients with HED and the carrier females had higher incidence of arches on the fingertips, of t" triradii, of hypothenar patterns (especially ulnar loops), and of transversal direction of the main lines on the palms than the control individuals did. The affected males were also characterized by severe hypoplasia and/or dysplasia of the dermal ridges ("ridge flattening"); the carrier females also showed ridge flattening and hypoplasia.

Dermatoglyphics↗
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↗
PubMed1981

New chromosomal dysmorphic syndromes. 4. Trisomy 12p.

This is the report of two independent families in which a balanced maternal translocation led to trisomy 12 p in one of each their offspring. Evaluation of 21 further case reports indicates that this is a phenotypically well defined syndrome which leads to severe developmental retardation. It can be recognized by a characteristic combination of craniofacial anomalies which are summarized in a phantom picture. The gene sequences which produce the typical features in the trisomic state must be localized distally to band 12p12, which is the breakpoint in the partial trisomies. The specific craniofacial anomalies are not visibly modified by the length of the trisomic segment or additional small monosomies or trisomies of recipient chromosomes. However, the frequency and severity of organ malformations and the resulting probability of survival seem to decrease with increasing degrees of chromosomal imbalance. A cytogenetic classification of the 21 inherited translocations and a segregation analysis from the pedigree data was performed. For the different types of translocations the calculated risk figures are given.

Chromosomes, Human, 6-12 and X↗
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

New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q.

Chromosome analysis in a newborn, the daughter of diabetic parents, who showed multiple dysmorphic signs and malformations revealed direct duplication of a long arm segment of chromosome 3(3q2100 leads to 3q2700). Both parents have normal karyotypes. Compilation of the phenotype stigmata with those of 7 other patients and 1 fetus with partial trisomy 3q confirmed that clinical recognition of this syndrome is possible. It is characterized by hypertrichosis, typical craniofacial dysmorphia, frequent organ malformations and skeletal anomalies, as well as a peculiar dermatoglyphic pattern. It is a severe genetic disturbance, leading to death in the first months of life in many cases and only symptomatic care is advised.

Bone Diseases, Developmental↗