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.

[Competency-based medical education: National Catalogue of Learning Objectives in surgery]. / Kompetenzorientierung in der medizinischen Ausbildung: Nationaler Lernzielkatalog Chirurgie.

Competency-based medical education is a prerequisite to prepare students for the medical profession. A mandatory professional qualification framework is a milestone towards this aim. The National Competency-based Catalogue of Learning Objectives for Undergraduate Medical Education (NKLM) of the German Medical Faculty Association (MFT) and the German Medical Association will constitute a basis for a core curriculum of undergraduate medical training. The Surgical Working Group on Medical Education (CAL) of the German Association of Surgeons (DGCH) aims at formulating a competency-based catalogue of learning objectives for surgical undergraduate training to bridge the gap between the NKLM and the learning objectives of individual medical faculties. This is intended to enhance the prominence and visibility of the surgical discipline in the context of medical education. On the basis of different faculty catalogues of learning objectives, the catalogue of learning objectives of the German Association of Orthopedics and Orthopedic Surgery and the Swiss Catalogue of Learning Objectives representatives of all German Surgical Associations cooperated towards a structured selection process of learning objectives and the definition of levels and areas of competencies. After completion the catalogue of learning objectives will be available online on the webpage of the DGCH.

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.

[Psychometric results in patients with Klinefelter syndrome]. / Psychometrische Befunde bei Patienten mit Klinefelter-Syndrom.

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.

[A dysplasia-epilepsy syndrome in a patient with ring chromosome 21]. / Dysplasie-Epilepsie-Syndrom bei Ringchromosom 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.

Male infant with cat cry syndrome and apparent absence of the Y chromosome.

We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome. The karyotype is interpreted as 45,X,del(5)(qter leads to p13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.

[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. / Cat Eye-Syndrom. Klinische und cytogenetische Differentialdiagnose

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.

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.

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.