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Biomedical subjects

H Dosik

Publications and source records attributed to H Dosik.

At least 127 records · Page 7Linked to original sources

Chronic myelogenous leukemia presenting in the blastic phase and its association with a 45 XO Ph1 karyotype.

A 58-yr-old male patient presented in the blastic phase of chronic myelogenous leukemia (CML). Cytogenetic studies revealed a 45 XO Ph1 chromosome pattern in bone marrow cells during a short remission and again in the blastic phase of the disease. The patient expired 8 mo following diagnosis. The blastic phase of CML can stimulate acute myelogenous leukemia (AML) clinically and hematologically; CML can be differentiated by the presence of the Ph1 chromosome and the stigmata of CML. Absence of the Y chromosome from the bone marrow in CML is a recently described finding. Previous reports indicating the prevention of the blastic phase in patients with this karyotype could not be confirmed by our or other recently reported cases.

Chromosomes, Human, 21-22 and Y↗

Pseudohyperkalemia and extreme leukocytosis.

Two patients with chronic lymphocytic leukemia and pseudolhyperkalemia are described. Both patients had white blood cell counts exceeding 600,000 per cubic millimeter. Routine determinations of serum potassium were elevated while normal values were obtained when plasma and serum were separated within 30 minutes of venipuncture. Incubation of clotted and heparinized specimens for 6 hours was accompanied by a marked increase of potassium levels. This study indicates that extreme leukocytosis alone can give rise to apparent hyperkalemiamtrue values can be obtained if the determinations are performed quickly after venipuncture.

Aged↗

Variable X chromosomal abnormalities in patients with stigmata of Turner syndrome.

Four cases with suspected sex chromosomal abnormalities and clinical features and endocrine data typical of Turner syndrome are presented. Chromosome preparations made from skin fibroblasts and peripheral blood and multiple banding techniques employed to map the genes of their X chromosomes showed variable results. A review of the literature also revealed conflicting findings regarding the mapping of genes on the X chromosome. Despite different cytogenetic findings, the clinical features of the four cases presented were quite similar.

Adolescent↗

Characterization of human heteroploid cell line J-111: Reverse banding patterns of marker chromosomes.

The karyotype of the human cell line, J-111, has been studied employing R-banding by fluorescence using acridine orange technique (RFA). The model chromosome number of this line was 112. All human chromosomes except the Y were present in each metaphase. Twenty-one marker chromosomes were distinguished and their possible origins were investigated. Of these, twelve were consistently present in all cells. Nine markers were highly variable. Four typical marker chromosomes of HeLa cells were found and their origins were identified, indicating that the line is a HeLa contaminant. The reverse banding patterns of all marker chromosomes are presented and the value of the RFA technique is discussed.

Aneuploidy↗

A rapid method for identification of constitutive heterochromatin of secondary constriction regions of human chromosomes 1, 9, and 16.

The secondary constriction regions (h) of chromosomes 1, 9, and 16 stained deep red by RBA (R-bands by BrdU using Giemsa)--a useful tool for demonstrating the constitutive heterochromatic heteromorphisms in these regions. The unusual staining pattern of bands p 12 to q11 of chromosome 3, which is late replicating, also is reported. The extended deep red region does not correspond to C-banding on chromosome 3. This technique does not require sequential banding by QFQ and CBG for detecting the h-region heteromorphisms.

Acridine Orange↗

The clinical significance of pericentric inversion of the human Y chromosome: a rare "third" type of heteromorphism.

A 28-year-old normal East Indian was found to have a pericentric inversion of the Y chromosome. After reviewing the literature, it was concluded that an inverted Y chromosome does not impede the production of normal sperm and does not predispose to non-disjunction of other chromosomes in the progeny. Thus, the earlier concept of nondisjunction was rejected, and it is suggested that aberrant cases with aneuploidy and an inverted Y are fortuitous. The pericentric inverted Y is inherited from generation to generation and has no clinical significance. The prevalence of males with pericentric Y inversion in the general population is approximately 1 per 1000. It is suggested that a pericentric inversion of the Y chromosome is a rare chromosomal heteromorphism and should be called type III.

Adult↗