Biomedical subjects
Publications and source records attributed to A Rodewald.
1025 individuals from Southern Germany were examined. The gene frequencies for GLI1 are 0.4235 and for GLI2 0.5765. These frequencies are compared with those of other authors.
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.
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.
We report on a newborn male infant suffering from anhidrotic ectodermal dysplasia. This x-linked recesive disorder has a high letality during the first year of life. Survivors are psychologically grossly impaired. This necessitates identification of carrier females. Characteristics of heterocygotes (e.g. palmar ridge flattening, paucety of pores, dermoglyphic pattern) are described. In pregnancy amniocentesis and chromosome analysis for sex determination are to be recommended.
A new case of X/autosome translocation in a male patient is described. Azoospermia and Klinefelter like stigmata can be explained as a consequence of the balanced translocation, or by disturbed X-chromosomal inactivation during spermiogenesis.
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The four endogamous groups of fishermen living around the city of Puri, located on the eastern coast of India, were studied for blood groups, red cell enzymes and serum proteins (11 loci). Only 1.3% of the total diversity among the groups studied is due to differences between them (GST = 0.013). The genetic distances between populations were estimated using Edwards and Cavalli-Sforza's method. The pattern of genetic distance reflects the geographical distribution of these groups. In general, these observations support the patterns of variation based on anthropometric and dermatoglyphic variables.
Two samples representing the Moslem and Christian communities of Jordan were examined for the polymorphic serum proteins AHSG, BF, FXIIIB, GC, HP, PI, PLG, and TF. The results revealed similar allele distributions, and low interpopulation differentiation (GST = 0.0004) between the two communities. The low HP*1S (< 0.12) allele frequencies and the comparatively high PLG*B (> 0.40) and BF*S.07 (approximately equal to 0.05) frequencies are characteristic of the populations of this region.
A sample of 124 healthy unrelated Arabs from Amman, Jordania were studied for AHSG, BF, F XIII B, GC, PI, PLG and TF serum protein markers. The more recently discovered systems AHSG, F XIII B and PLG appear to be very useful for the characterization of Near Eastern populations.