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Biomedical subjects

A Rodewald

Publications and source records attributed to A Rodewald.

At least 37 records · Page 2Linked to original sources
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↗
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↗
PubMed1979

The dermatoglyphic pattern of the trisomy 9p syndrome.

This paper shows that the study of dermatoglyphics is an objective aid in the clinical diagnosis of chromosomal dysmorphic syndromes. The dermatologlyphic patterns of four patients with trisomy 9p were analyzed and compared with dermatoglyphic data from 63 published case reports on the condition. We consider that the following traits constitute the combination of dermatoglyphic patterns that is specific to trisomy 9p: an excess of arches on the fingertips and toes, a low total finger ridge count, the absence of digital triradii b and c, and the presence of zygodactylous triradii z, z' and z'', a simian crease, a single crease on the 5th finger, a hypothenar crease, a distally placed axial triradius t', a proximal or tibial arch or both on the hallux, and increased intensity of the plantar patterns. A "phantom picture" is constructed, which can be used for dermatoglyphic diagnosis of the trisomy 9p syndrome.

Chromosomes, Human, 6-12 and X↗
PubMed1978

Refined mapping of the gene for glutathione reductase on human chromosome 8.

Activity of the enzyme glutathione reductase (EC 1.6.4.2) in erythrocytes and fibroblasts of a patient with karyotype 46, XY, del(8) (pter-p212:) was found to be in the normal range. With results from other laboratories, this allowed a more precise mapping of the gene for this enzyme in the region 8p2100-8p212.

Child↗
PubMed1978

The dermatoglyphic pattern of the trisomy 10p syndrome.

Dermatoglyphic findings are reported for six members of a family in which two patients have partial trisomy for the short arm of chromosome 10(p13 leads to pter) and there are two unaffected carriers of the balanced translocation t(5;10)(p15;p13). The patterns are compared with those of nine other published cases of trisomy 10p. The following dermatoglyphic features appear to be characteristic for the trisomy 10p syndrome: frequent whorls and a high total ridge count on the finger prints and on the palms, C-lines terminating in space 11 (2nd interdigitum), B-lines terminating in space 9(3rd interdigitum), axial triradii t'', high atd angles, abnormal creases on the palms and soles, and general dysplasia of the papillary ridges.

Chromosomes, Human, 6-12 and X↗
PubMed1977

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation.

An unbalanced X/Y translocation was found in a male child with malformed external genitalia and in his mother, who are respectively nullisomic and monosomic for the distal portion of Xp and have the translocated distal segment of Yq in excess. The loss of the distal portion of Xp is supposed to be the cause of the phenotypic abnormalities present in these subjects. The phenotype of our subjects is compared with those of the other cases of X/Y translocation described in the literature.

Dermatoglyphics↗
PubMed1977

New chromosomal dysmorphic syndromes. 2. Trisomy 10p.

This is the report of a family in which a balanced translocation in the mother t(5;10)(p15;p13) led to an unbalanced chromosomal constitution in two children. It was identified by G-banding analysis as trisomy of the distal portion of the short arm of chromosome 10 (p13 leads to pter). Comparison with 15 previous reports of trisomy 10p confirms the existence of a characteristic dysmorphic syndrome.

Abnormalities, Multiple↗
PubMed1977

The medicolegal usefulness of the Kidd system in exclusion of parentage.

The blood samples of 2741 people from Germany were examined. The gene frequencies of Jka was found to be 0.49345 and of Jkb 0.50655. The theoretical probability of exclusion lies at 18,57%, the practical one only at 7.09%, because in many cases, the presumptive father is also the biological father. It is a system of dependable information. The Kidd system can be used as a classical system for exclusion of parentage.

Blood Group Antigens↗
PubMed1977

New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome.

A mentally retarded 8-year-old boy with a de novo partial monosomy for the short arm of the No. 8 chromosome is described. Based on G-banding analysis, the patient's karyotype was identified in lymphocytes and skin fibroblasts as 46,XY,del(8) (pter leads to p21:). No chromosomal abnormalities were found in the phenotypically normal mother, father and sister of the propositus. Four further cases described in the literature indicate that partial monosomy of the short arm of the No. 8 chromosome might be associated with a syndrome characterized by the following stigmata: mental retardation, slow growth, high forehead, broad chest, wide-set nipples, pulmonary stenosis with atrial and/or ventricular septal defect, hypoplasia of the genitalia, dermatoglyphic stigmata.

Child↗