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Biomedical subjects

M Tolksdorf

Publications and source records attributed to M Tolksdorf.

At least 19 recordsLinked to original sources
PubMed1994

Normal growth and normalization of hypergonadotropic hypogonadism in atypical Turner syndrome (45,X/46,XX/47,XXX). Correlation of body height with distribution of cell lines.

A comparison has been made of a case with 45,X/46,XX/47,XXX mosaicism with some 50 cases in the literature. A significant positive correlation was found between height standard deviation scores of mosaic patients from the literature and the frequency of cells with a normal chromosome constitution (n = 21, rs = 0.552, P < 0.01). In contrast, a significant negative correlation was seen between body height and the frequency of cells with a 45,X constitution (n = 21, rs = -0.594, P < 0.01). There was no significant correlation of height standard deviation score with the 47,XXX cell line (n = 21, rs = -0.353). A patient with a rare chromosomal mosaicism (45,X/46,XX/47,XXX) is described. The diagnosis was first made by chromosome analysis in amniotic cells. The patient showed no symptoms suggestive of Turner syndrome and growth followed the 75th height percentile. Basal and gonadotropin-releasing hormone stimulated gonadotropin levels normalized after age 4.8 years and did not subsequently return to hypergonadotropic levels. In blood lymphocytes, there was an increase in the frequency of cells with a normal chromosome constitution over 9 years. This in vivo cell selection is discussed. Chromosome analysis in skin fibroblasts showed the same triple mosaicism with a similar distribution of cell lines as in blood lymphocytes. In conclusion, statistical evidence was demonstrated that the severity of short stature is correlated with the distribution of cell lines in 45,X/46,XX/47,XXX mosaicism. This finding is of importance for the genetic counselling in cases of prenatal diagnosis of mosaic Turner syndrome.

Adolescent↗
PubMed1984

Cholesterol fractions and triglycerides in children and adults with Down's syndrome.

In 186 patients with Down's syndrome (age 1-68 yr) total cholesterol and triglycerides were determined, quantitative lipoprotein electrophoresis was performed and cholesterol fractions and beta/alpha-lipoprotein ratios were calculated. A reference group of 51 non-mongoloid mentally handicapped adults living in the same institutions were examined in the same way. Patients' total cholesterol, beta-cholesterol and triglycerides did not differ from the controls. However, alpha-cholesterol was significantly lower and the beta/alpha-lipoprotein ratio significantly higher in patients, findings which are associated in the general population with a high risk for premature atherosclerosis. Interestingly, mortality causes and pathological findings in Down's syndrome show no increased frequency of cardiovascular diseases.

Adolescent↗
PubMed1983

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.

Major diagnostic criteria for the Rud syndrome are ichthyosis, hypogonadism, mental retardation, and epilepsy. Two unrelated patients are presented and compared with 28 reported cases. Genetical heterogeneity of the Rud syndrome is suggested by differences in clinical features, histological and endocrinological findings, steroid sulfatase activity, and modes of inheritance.

Child↗
PubMed1983

Characterization of a Y/15 translocation by banding methods, distamycin A treatment of lymphocytes and DNA restriction endonuclease analysis.

A de novo 14/21 Robertsonian translocation and a familially inherited Y/15 translocation were observed in a male infant with anomalies of the external genitalia. The Y/15 translocation was confirmed by cultivating lymphocytes in a medium containing distamycin A and by determining the occurrence of the Y-specific DNA sequences by means of Hae III restriction endonuclease analysis. Any connection between the structural chromosomal abnormalities and the symptoms of the infant is highly improbable.

Chromosome Banding↗
PubMed1982

[Psychometric results in patients with Klinefelter syndrome].

In psychodiagnostic investigation 12 Klinefelter-patients and 12 psychosomatic patients matched for age and socioeconomic status were compared. Our results are generally in agreement with the observations in recent research concerning some personality traits. 1. The intelligence of Klinefelter-patients rather meets the mark of practical than educational standards. Therefore these patients quite often fail at school, which otherwise is adequate to the level of their general-IQ. 2. Klinefelter-patients generally score low in the masculinity-scale. Equally remarkable is the tendency towards introversion, shyness, inhibition and an unstable emotionality.

Adolescent↗
PubMed1981

Clinical aspects of Down's syndrome from infancy to adult life.

Clinical pictures of mongoloid persons are demonstrated during different phases of life, with particular reference to the later one. Psychological and intellectual problems, immunologic deficiencies, and early aging are discussed. Histopathologic changes in the thymus are demonstrated. Because of the early aging of mongoloids, we examined the blood serum triglycerides, the cholesterol, and the LDL- and HDL-cholesterol in Down's syndrome.

Adolescent↗
PubMed1976

Identification of the triploid genome by the C-banding method.

We report on cytogenetic studies of a malformed fetus, whose clinical symptoms indicated the diagnosis of triploidy. This was confirmed by chromosome analysis of peripheral lymphocytes of cord blood. Using the C-banding method it was possible to identify the origin of the extra haploid set: marker chromosomes indicate, that nonreduction of the first meiotic division in the father's spermiogenesis most probably leads to triploidy. However, in our case fertilization of the zygote by two sperms cannot be excluded.

Abnormalities, Multiple↗
PubMed1976

Cytogenetic investigations in a new case of Bloom's syndrome.

Cytogenetic studies of an 8-year-old caucasian girl with typical but mild manifestation of Bloom's syndrome showed a characteristic increase of homologous chromatid translocations and prematurely condensed chromosomes. The average frequency of sister chromatid exchanges (SCE) in lymphocytes with 133 was much higher than in skin fibroblasts with 49. The inter- and intrachromosomal distributions of SCE in lymphocytes were analyzed.

Abnormalities, Multiple↗
PubMed1975

[A dysplasia-epilepsy syndrome in a patient with ring chromosome 21].

We report a 10 year old girl with psychomotor retardation, myoclonic syndrome and extreme photosensitivity. Clinical symptomatology and EEG-findings were not compatible with any of the known myoclonic syndromes. The patient's remarkable phenotype with short stature, dystrophy, facial dysmorphia characterized by antimongoloid palpebral fissures, broad root of the nose, coarse nose, inner epicanthic folds, dysplasia of the external ears, higharched palate, syndactylism between 2nd and 3rd toes on both sides, small narrow hands is suggested of a chromosomal disorder. A ring-shaped chromosome of the G-group (21--22) could be found. After using the Giemsa- and C-banding technique this chromosome could be identified as number 21. Patients with ring chromosome 21 or 22 are phenotypically not distinguishable. This is due to duplication-deficiency-variability of ring chromosomes in growing somatic tissues. The cellular genotype of ring chromosomes varies between monosomy, trisomy and polysomie.

Child↗
PubMed1975

LH and FSH response to synthetic LH-RH in children and adolescents with Turner's and Klinefelter's syndrome.

Stimulation with LH-RH (luteinizing hormone-releasing hormone) was performed in 29 children and adolescents with Turner's syndrome (15 less than 13 years old), and in 11 patients with Klinefelter's syndrome (7 before puberty). Synthetic LH-RH was injected intravenously in a dose of 25 mug/m2; plasma LH and FSH were determined radioimmunologically. The results show that patients with Turner's syndrome had pathologically elevated LH and FSH values at all ages. Normal LH and FSH results before and after LH-RH were found in 3 patients with X0/XX karyotype who had spontaneous menstruation. The 2 adult patients with Klinefelter's syndrome showed an exaggerated LH response and excessively high FSH levels before and after LH-RH, consistent with hypergonadotropic hypogonadism. Six out of 7 prepubertal boys with Klinefelter's syndrome, had a normal LH and FSH response to LH-RH. Only 1 prepubertal boy with cryptorchidism and genital maliformation in addition to the Klinefelter's syndrome had pathological values. The normal gonadotropin results in prepubertal patients with Klinefelter's syndrome show that their testes apparently loose the negative feedback activity on gonadotropin secretion only during puberty, at a time when tubular hyalinization appears. This is in contrast to Turner patients with gonadal dysgenesis who have hypergondadotropic hypogonadism already early in childhood.

Adolescent↗
PubMed1975

[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome. The prominent symptoms are: anal stenosis, preauricular tags and pits, coloboma of the iris, doubling of the pelvis and ureter on both sides, vesicourethral reflux on the right side and normal mental development. Leucocyte alkaline phosphatase is normal. Chromosomal analysis shows a supernumerary submetacentric chromosome. This extra chromosome is smaller than the G-group chromosomes and has satellites on the short and long arms. Autoradiography after 3H-thymidine incorporation shows a late-labeling marker chromosome. After using the Giemsa-banding technique, the chromatides demonstrate dark bandings with only soft, unstained satellites. With the fluorescence method, one can see spotlike fluorescence of the satellites on both arms and diffuse fluorescence of the hetero-chromatic segments. In addition, the C-bandings demonstrate a homogeneous dark staining of the chromatids, but we did not find stained satellites. Using the Giemsa-11 technique one can see the 47th chromosome with predominantly heterochromatic parts, but small euchromatic segments are visible between them. Satellites are unstained. Using currently accepted cytogenetical methods, it is not possible to identify the origin of this supernumerary marker chromosome.

Abnormalities, Multiple↗