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Biomedical subjects

J Kunze

Publications and source records attributed to J Kunze.

At least 109 records · Page 6Linked to original sources
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

[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↗
PubMed1965

Supplementary knowledge of results.

Children learned to respond differentially to four tones when correct responses were indicated by re-sounding the tone and flashing a signal lamp (simple knowledge of results). Correct responses were then made to advance a display counter. With this procedure, rate of response increased, but accuracy decreased. Mild punishment-points subtracted from the count-was then arranged for incorrect responses. Accuracy returned to or above its previous level. Response rate tended to remain above its initial level. These results indicate that when supplementary reinforcers are employed, precise contingencies must be arranged to ensure desired behavior.

Child↗