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Biomedical subjects

H Dosik

Publications and source records attributed to H Dosik.

At least 109 records · Page 6Linked to original sources
PubMed1978

Coulter S hematocrit and microhematocrit in polycythemic patients.

Falsely high microhematocrits are found when compared to Coulter S hematocrit levels. This increase is exaggerated when hematocrit levels are increased and the cells are hypochromic and microcytic. Polycythemic patients monitored with microhematocrits may be phlebotomized incorrectly because of this abnormality. We suggest the use of Coulter S hematocrits or spectrophotometric hemoglobin levels to monitor polycythemic patients.

Hematocrit↗
PubMed1978

Size and pericentric inversion heteromorphisms of secondary constriction regions (h) of chromosomes 1, 9, and 16 as detected by CBG technique in Caucasians: classification, frequencies, and incidence.

Eighty normal Caucasians were studied by CBG technique for estimation of size and inversion heteromorphisms of chromosomes 1, 9, and 16. Size heteromorphisms were classified into one of five sizes using 16p as a reference standard: very small, small, intermediate, large, and very large. Inversion heteromorphisms were also classified into 5 categories - eg, no inversion; partial inversion - minor; half inversion; partial inversion - major; and complete inversion. The frequencies of size heteromorphisms for chromosomes 1, 9, and 16 were 11.3%, 47.5%, and 7.5%, respectively. Thirty-four chromosomes were found to have inversions. Of these, 16 were in chromosome 1, and 18 were in chromosome 9. No inversions were found in chromosome 16. An increase in the size of the h region was more frequently associated with inversion, suggesting that there is a possible relationship between size and inversion. For example, there were 118 chromosomes that were classified as "intermediate" by size; 23 (19.5%) had inversions. In contrast, there were 225 that were "small" in size, and only 10 (4.4%) had inversions. There was no significant difference between males and females for size and position heteromorphisms.

Adult↗
PubMed1978

Length heteromorphisms of fluorescent (f) and non-fluorescent (nf) segments of human Y chromosome: classification, frequencies, and incidence in normal Caucasians.

Sixty normal male Caucasians were selected to study the length of the Y chromosome. QFQ banding was performed. Chromosomes 19 and 20 (F) and Y were measured directly from the film. Y/F, f/F, and nf/F indices (f = fluorescent; nf = non-fluorescent segment) were determined. The length of the Y chromosome was classified into 5 groups; very small, small, average, large, and very large with Y/F indices of less than 0.8, 0.81--0.94, 0.95--1.09, 1.1--1.23, and greater than 1.23, respectively. The frequencies of Y/F indices for these groups were 0 (0%), 9 (15.0%), 40 (66.7%), 8 (13.3%), and 3 (5.0%), respectively. The most frequent class was 0.95--1.09 and was defined as the 'average' Y/F index for the human Y chromosome. The variation in the total length of the Y chromosome was accounted for by variations in the length of the non-fluorescent as well as the fluorescent segments. No relation between f and nf segments was observed. The mean Y/F, f/F, and nf/F indices were 1.022, 0.441, and 0.574, respectively.

Adult↗
PubMed1978

Primary amenorrhea in a black female with duplication and inversion of the secondary constriction regions of chromosome 9.

A 36-yr-old black female presented with primary amenorrhea. The chromosomal constitution based on QFQ (Q bands by fluorescence using quinacrine) RFA (R bands by fluorescence using acridine orange), GTG (G band by Giemsa using trypsin), and CBG (C band by Giemsa using barium hydroxide) techniques was 46, XX, duplicated (9; q12), inverted (9; p12q12.1) in lymphocytes and skin fibroblasts. Both sex chromosomes were normal. Buccal smear revealed 22% Barr bodies. Duplication and inversion of secondary constriction regions of chromosome 9 may possibly be associated with abnormal clinical features.

Adult↗
PubMed1978

Cytogenetic polymorphism or Y/15 translocation in a black male with ambiguous genitalia.

A black male with ambiguous genitalia was found to have presumptive Y/15 translocation (46,XY,der(15) ? t(15;Y) (13;q12.2). The proband inherited this translocation from his father. All banding techniques were utilized to determine whether this was a polymorphism or a Y/15 translocation. No definite conclusion was reached but the results of QFQ, RFA, CBG, and GTG banding techniques are highly suggestive of Y/15 translocation.

Child↗
PubMed1977

Size variation polymorphisms of the short arm of human acrocentric chrosomes determined by R-banding by fluorescence using acridine orange (RFA).

One hundred normal Caucasians were studied by the RFA technique to estimate the frequencies of size variation of the short arm of acrocentric chromosomes. Each size variation was classified into one of five levels. The most frequent size level(code) was 3; therefore, this was regarded as the 'average' size. If one excludes the average size, the frequencies of size variation by RFA for chromosome 13, 14, 15, 21, and 22 were 22.5, 19.5, 14.5, 19, and 17% respectively. There was no significant difference for the overall frequencies of size variation between sexes. Furthermore, the RFA technique detects more variation in the size of human acrocentric chromosomes than any other method.

Acridines↗
PubMed1977

SV40 T-antigen expression in skin fibroblasts from clinically normal individuals and from ten cases of Fanconi anemia.

Previous studies of the expression of SV40 genetic information by skin fibroblasts included limited numbers of cell donors and failed to adequately consider possible effects of age, sex, and ethnic origin on assay results. A population of 76 healthy subjects were selected for study following determination of personal and family disease history and karyological analysis. Skin fibroblasts from these individuals were tested for expression of SV40 T-antigen by indirect immunofluorescent assay. The data were normally distributed and showed no significant differences between the age, sex, or ethnic groups tested. The occurrence of rare karyological anomalies in this control population had no effect on T-antigen expression. Fibroblasts from 10 Fanconi anemia patients demonstrated significantly elevated expression of T antigen compared to the well-defined control population, based on simple statistical criteria. T-antigen expression was elevated in two young patients prior to the onset of anemia and did not appear to correlate with the incidence or severity of other specific symptoms. Thus, elevated T-antigen expression in Fanconi anemia fibroblasts reflects an actual defect at the cellular level, rather than clinical, age, sex or ethnic factors not previously considered.

Anemia, Aplastic↗
PubMed1977

The value of reverse banding in detecting bone marrow chromosomal abnormalities: translocation between chromosomes 1, 9, and 22 in a case of chronic myelogenous leukemia (CML).

A case of chronic myelogenous leukemia (CML) with complex chromosomal abnormalities is reported. Conventional staining techniques indicated incorrectly that the Ph1 chromosome was not present. These studies showed a 46,XY,-1,+C karyotype in all bone marrow cells. Employing RFA (R bands by fluorescence using acridine orange) technique it was clear that the part of the long arm of chromosome 1 (1q23 leads to qter) was missing the tip of the long arm chromosome 22 (band q22) was translocated to it. The missing long arm of chromosome 1 was translocated to the long arm of chromosome 9. Furthermore, there was a break at band 9q22 and the whole terminal part was lost. The value of RFA technique is discussed.

Acridines↗
PubMed1977

Frequency of RFA colour polymorphisms of human acrocentric chromosomes in caucasians: interrelationship with QFQ polymorphisms.

One hundred normal caucasians were studied by sequential QFQ and RFA in order to estimate the type and frequency of variation. Colour variants were classified into 1 of 6 colours by RFA and intensity variations into 1 of 5 levels by QFQ. The interrelationship between QFQ and RFA variants was also examined. It was found that there was no consistent relationship between negative or brilliant QFQ variants and the various colours observed with RFA. RFA colour polymorphisms for chromosomes 13, 14, 15, 21 and 22 were 33.0, 38.0, 28.0, 50.0 and 24.5% while QFQ frequencies were 56.5, 10.0, 10.0, 15.5 and 10.0% respectively. RFA is especially useful in studying the inheritance of chromosome 21.

Adult↗
PubMed1977

Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q 14q) resulting in trisomy for chromosome 13q.

This report includes a patient with an inherited pericentric inversion of chromosome No. 2 in addition to a Robertsonian translocation resulting in trisomy for chromosome 13q. The chromosomal constitution of the proband was 46,XX,inv(2) (pter leads to p11 : : q14 leads to p11 : : q14 leads to qter); t(13,14) (13qter leads to 13p11 : : 14q11 leads to 14qter). Sequential QFQ, RFA and GTG banding techniques were employed on the chromosomes of all family members. The chromosomal constitutions of the father and his first child were normal while the mother had an inversion of chromosome No. 2 [46,XX,inv(2) (pter leads to p11 : : q14 leads to p11 : : q14 leads to qter)]. The proband inherited this abnormal chromosome. In addition, she had a de novo Robertsonian translocation involving chromosomes 13q and 14q resulting in trisomy of chromosome 13q.

Abnormalities, Multiple↗
PubMed1976

Y-chromosomal genes in a phenotypic male with a 46XX karyotype.

A number of patients with a male phenotype and a female (46XX) karyotype have been described. Although there is little or no evidence for the presence of a Y chromosome in their cells, these individuals resemble patients with Klinefelter syndrome (47XXY). Using a new serological assay for the presence of H-Y antigen, a cell surface component associated with the Y chromosome, we have demonstrated the presence of Y-chromosomal genes in a 46-year-old man with an XX karyotype. In addition, using standard cytological technique, we have located a minor population of XXY cells as well as cells bearing and abnormal chromosome 17 among the blood leukocytes of this individual.

Chromosomes, Human, 16-18↗
PubMed1976

Serologic detection of a y-linked gene in xx males and xx true hermaphrodites.

To test the hypothesis that H-Y antigen (present on both somatic and germ cells in normal males but not normal females) is essential for testicular differentiation, we studied four XX males and three XX true hermaphrodites. Blood cells from six subjects and cultured gonadal fibroblasts from a seventh expressed H-Y antigen. Since expression of this antigen requires the presence of a gene normally carried by the Y chromosome, this gene, and perhaps additional Y chromosomal material, should have been present in the genome of these subjects. In one patient this presence is accounted for by a Y-to-X translocation, detectable by chromosome banding. In another a normal Y chromosome was present in a minor population of cells. In the remaining five, no karyotypic abnormality was detectable. Immunologic detection of H-Y antigen is a sensitive test for the presence of the Y chromosome or of its male-determining segment.

Adult↗