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Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 235 records · Page 13Linked to original sources
PubMed1979

A girl with an end-to-end fusion of two X'S.

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.

Child, Preschool↗
PubMed1979

Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations.

By prenatal diagnosis two apparently unrelated reciprocal translocations involving chromosomes 6/15 and 13/14 were revealed in a fetus in whom echography demonstrated an abdominal tumor. Pregnancy continued. At birth the child had dysmorphia and hydronephrosis, for which surgery was performed. The psychomotor development was delayed. These abnormalities may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

Abdominal Neoplasms↗
PubMed1979

Abnormal children of a 47,XYY father.

Abnormal children of two 47,XYY men were studied. One of these men had 2 normal daughters and a child, 45,X/46,XY, with gonadal dysgenesis. The other man had 2 normal sons and a child with Down's syndrome. The extra chromosome 21 of this child came from the mother. Another 47,XYY man had 4 normal children.

Adult↗
PubMed1979

Roberts's syndrome and clonidine.

A child is described with features of Robert's syndrome. The mother took clonidine during pregnancy. The question of a relationship between the child's abnormalities and clonidine is raised.

Abnormalities, Drug-Induced↗
PubMed1978

Chromosome analysis of spleen and/or lymph nodes of patients with chronic myeloid leukemia (CML).

Origin and spread of the chromosomally abnormal cells that appear in chronic myeloid leukemia (CML) after transformation are unknown. Spleen and lymph node may be involved. In 16 patients with CML splenectomy and/or adenectomy were performed before or during the blastic crisis of the disease, followed by a chromosomal analysis of the cells from the removed organ. At the same time, the chromosomes of the blood cell and of the bone marrow were also analyzed. Analyses were done with R banding. The results show that an extramedullary clonal development with duplication of the Ph1 chromosome and other features occurred. From a cytogenetic standpoint, acute blastic phase of CML is frequently characterized by an increased number of chromosomes owing to preferential gain of additional chromosomes. This, then, would clearly point to extamedullary acute transition in CML.

Bone Marrow↗
PubMed1978

[A new family with mutation of the structural gene of human ornithine carbamoyltransferase].

Studies of a child with hyperammonemia have demonstrated a deficiency in OCTase. The kinetic properties of the enzyme were studied and it could be shown that we have to deal with a new mutation which is different from the ones previously known. It is a mutation of the structural gene. The detection of a heterozygote is possible when the urinary orotic acid excretion is studied after a loading meal (2g of proteines per kilo of weight). A child with hyperammonaemia due to ornithine transcarbamylase deficiency is described. A new structural gene mutation is probable because the kinetic properties of the enzyme are different to previously described variants. The heterozygote could be detected by the measurement of the excretion of orotic acid in the urine following a protein load of 2 g/Kg.

Amino Acid Metabolism, Inborn Errors↗
PubMed1978

[Keratosis follicularis spinulosa decalvans and amino-aciduria (author's transl)].

A new case of keratosis follicularis spinulosa decalvans (Siemens, 1925) in a 12 1/2 year old boy is related. This X-dominant inherited disturbance of follicular keratinization is associated with an amino-aciduria in the propositus and his mother, especially an increase of aspartic acid in urin and blood. The scarring infundibular plugs are constituted by nucleated keratin, which brightened up in polarized light and seems to be of internal trichilemmal origin.

Aspartic Acid↗
PubMed1977

Sister chromatid exchanges in balanced translocation carriers and in patients with unbalanced karyotypes.

Sister chromatid exchanges (SCEs) were studied in peripheral human leukocytes from 16 patients with balanced translocations or with unbalanced karyotypes, and from 4 controls. No difference was seen between these two groups of people in the mean number of SCEs per cell, or in the total number of SCEs observed for each pair of autosomes involved in the translocations studied. With this last number no difference from the expected number of SCEs, if one supposes that SCEs follow a random distribution, was seen.

Chromatids↗