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H Dosik

Publications and source records attributed to H Dosik.

At least 55 records · Page 3Linked to original sources
PubMed1983

Expression of nucleolus organizer regions (NORs) in human acrocentric chromosomes by NSG, QFQ and RFA techniques: are they identical?

The morphology of nucleolus organizer regions (NORs) of human acrocentric chromosomes has been studied in a family by QFQ, RFA, and NSG banding techniques. The pale green colour seen by RFA was found darkly stained by NSG. However, in some instances, NOR regions were expressed by NSG technique but the pale green colour was not seen. Therefore, it is concluded that there is no direct relationship between a heteromorphism identified by one technique and that identified by another.

Acridine Orange↗
PubMed1983

Size of Y chromosome not associated with abortion risk.

The average length of the Y chromosome in men whose wives had multiple fetal loss was 1.046 +/- 0.106, which is not significantly different from the average length in controls (1.068 +/- 0.096). Therefore, it is concluded that there is no evidence for an association of the size of the Y chromosome with an increased risk of abortions as previously suggested. Furthermore, the authors suggest that the definition of a large Y be revised, as the majority of normal males have a Y/F index of more than 1.0, so a Y/F ratio of greater than 1.0 should not be considered a long Y chromosome.

Abortion, Habitual↗
PubMed1982

Human chromosomal heteromorphisms in American blacks. VI. Higher incidence of longer Y owing to non-fluorescent (nf) segment.

Sixty normal male American blacks were selected to study the length of fluorescent (f), non-fluorescent (nf), and total length of the Y chromosome by the QFQ technique. The length of the Y chromosome was classified into five groups: very small, small, average, large, and very large. The frequencies of Y/F indices for these groups were 0.0, 3.33, 56.67, 30.00, and 10.00%, respectively. The variation in the total length of the Y chromosome was accounted for by variations in the length of the nf as well as the f segment. A longer Y was noted in blacks owing to an increase in size of the nf segment in comparison with a normal Caucasian population. Forty percent of American blacks had large or very large Y chromosomes, while this class comprised only 18.3% of Caucasians, which is significantly different (p less than 0.05). Furthermore, the length of the Y chromosome was normally distributed among Caucasians, while among blacks the distribution was skewed to the left. The mean Y/F, f/F, and nf/F indices were 1.09 +/- 0.10, 0.42 +/- 0.09, and 0.67 +/- 0.04, respectively.

Black People↗
PubMed1982

Higher incidence of small Y chromosome in humans with trisomy 21 (Down syndrome).

The length of the Y chromosome was measured in 42 black patients with trisomy 21 (47,XY,+21) and a similar number of normal individuals of American black ancestry. The length of the Y was expressed as a function of Y/F ratio and arbitrarily classified into five groups using subjectively defined criteria as follows: very small, small, average, large, and very large. Thirty-eight % of the trisomy 21 patients had small or very small Ys compared to 2.38% of the controls (P less than 0.01). In both populations the size of the Y was not normally distributed. In the normals it was skewed to the left, whereas in the Downs the distribution was flat (platykurtic). A significantly higher incidence of Y length heteromorphisms was noted in the Down as compared to the normal black population. In the light of our current understanding that about one-third of all trisomy 21 patients are due to paternal nondisjunction, it may be tempting to speculate that males with small Y are at an increased risk for nondisjunction of the 21 chromosome.

Adolescent↗
PubMed1982

Cytosine arabinoside with daunorubicin or adriamycin for therapy of acute myelocytic leukemia: a CALGB study.

A randomized comparison of the relative efficacy and toxicity of daunorubicin (DNR) at 30 or 45 mg/sq m or adriamycin (ADM) at 30 mg/sq m, given on the first 3 days of a 7-day continuous infusion of cytosine arabinoside (ara-C) at 100 mg/sq m/day, shows the outcome to be dependent on anthracycline, dose, and patient age. DNR 45 is significantly better than DNR 30 or ADM 30 for inducing complete remissions (CR) in patients younger than 60 yr, (72%, 59%, 58% CRs, respectively). DNR 30 is better than DNR 45 or ADM 30 for inducing CR in patients older than 60 yr (47%, 31%, 35%, respectively). There was a corresponding shift in the induction mortality for the age, dose, and anthracycline groups. Adriamycin was significantly more toxic to the gastrointestinal tract than daunorubicin. The duration of complete remission, with cyclic courses of maintenance therapy, was independent of the patient's age, the dose, or choice of anthracycline used in induction, and of whether the maintenance courses were given every 4 wk or every 8 wk.

Adolescent↗
PubMed1982

Partial duplication for the short arm of chromosome 2 : the 2p23 to pter syndrome.

A 32 week, small for gestational age neonate was found to have partial duplication of the short arm of chromosome 2 (2p23 to pter). This duplication was due to a paternal balanced translocation [46,XY,t(2;20)(p23;q13)]. Peculiar facies with prominent eyes, low set ears and anteverted nostrils was apparent. A PDA with congestive heart failure occurred in the first weeks of life. The patient also had a marked diastasis recti, hemivertebrae, long tapering fingers and rocker bottom feet. The propositus was similar to the 14 cases of 2p duplication previously reported. It appears that duplication of the distal end of 2p (2p23 to pter), with or without deletion, should be classified as duplication (2p) syndrome.

Abnormalities, Multiple↗
PubMed1982

Influence of renal failure on myelosuppressive effects of melphalan: Cancer and Leukemia Group B experience.

The influence of renal insufficiency on melphalan-induced myelosuppression was examined during the initial 10 weeks of treatment in 295 patients with multiple myeloma. Patients were randomized to receive either oral melphalan (0.15 mg/kg/day for 7 days, followed by 0.05 mg/kg/day after recovery from the wbc count nadir) or iv melphalan (16 mg/m2 every 2 weeks for four doses, followed by a single dose every 4 weeks). All patients received a 6-week tapering course of prednisone. Patients with renal insufficiency (BUN greater than or equal to 30 mg/100 ml) had a significantly higher frequency of severe leukopenia (less than or equal to 1000 cells/mm3) following iv melphalan than did patients with normal renal function (50% vs 15%, respectively; P = 0.007). The latter effect resulted in an increased frequency of drug-related deaths secondary to infection. The frequency of severe thrombocytopenia (less than or equal to 25,000 cells/mm3) was also greater in patients with renal failure following iv melphalan therapy. Reduction of iv melphalan dose to 50% in patients with elevated BUN reduced the frequency of these complications to levels that were not significantly different from those observed in patients with normal renal function. The frequency of severe myelosuppression was independent of renal function in patients receiving oral melphalan. Possible explanations for these findings are discussed.

Blood Urea Nitrogen↗
PubMed1982

GTG banding is not sufficient for the localization of breakpoints in translocations.

This study demonstrated that the GTG banding technique is not sufficient for the precise localization of breakpoints in translocations. Multiple banding techniques are required in cases with complex rearrangements before describing a so called "new syndrome'. Nevertheless, it is concluded that each banding technique has certain advantages, but GTG technique is the poorest choice.

Adult↗
PubMed1982

Recent advances in detecting human chromosomal abnormalities by various banding techniques.

The recent advent of banding techniques has led to the precise identification of human chromosomal abnormalities. With these techniques, the exact breakpoints in broken chromosomes are usually localized, and a phenotype-genotype correlation has been established at a very refined level for abnormalities on several chromosomes. Additionally, several so-called "new syndromes" have been recognized on the basis of cytogenetic findings. Consistent chromosomal findings have been reported in different types of neoplasia, and the prenatal diagnosis of several common cytogenetic disorders can be made through amniocentesis. The recent development of high-resolution chromosome mapping will have a dramatic impact on clinical medicine.

Chromosome Aberrations↗
PubMed1981

Human chromosome heteromorphisms in Americans Blacks: II. Higher incidence of pericentric inversions of secondary constriction regions (h).

Eighty normal American blacks were studied by the CBG technique (C-bands by barium hydroxide using Giemsa) for estimation of size and inversion heteromorphism of chromosomes 1, 9, and 16, and the data were compared to those of whites using subjectively defined criteria. Size and inversion heteromorphisms were classified into 5 levels. The frequencies of size hetromorphisms of chromosomes 1 and 16 were 10.63% and 6.88%, respectively, which are not significantly different from those of a normal population of whites. A higher incidence of size heteromorphisms for chromosome 9 was noted in whites (47.5% vs 30%). The frequencies of inversion heteromorphism of chromosomes 1, 9, and 16 were 17.5%, 21.9%, and 0.0%, respectively. Overall, 61 chromosomes were found to have an inversion. Of these, 28 were in chromosome 1, and 33 were in chromosome 9. A higher incidence of inversion heteromorphisms of chromosomes 1 and 9 was noted in American blacks, while no inversions were found in chromosome 16 in either population. A significant association of increased size of the h region with inversion (r = 0.99 P less than 0.01) is demonstrated, ie, enlarged h regions have a higher frequency of inversions.

Adult↗
PubMed1981

Double trisomy 48,XXX,+ 18 in a newborn.

We report the 6th case of double trisomy X and 18 ie, 48,XXX,+ 18. The infant lacked overlapping fingers, simian creases, and structural heart disease and is alive at 275 days. Two X chromosomes were late replicating. Anomalies of the hands and kidneys involved only the right side in the present case; review of the five previous cases of 48,XXX, +18 also showed that anomalies of kidneys, hands, and ears affected predominantly the right side in three patients.

Chromosome Banding↗
PubMed1981

Duplication 3q: severe manifestations in an infant with duplication of a short segment of 3q.

A patient with duplication of a short segment of 3q (3q21 leads to 26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.

Abnormalities, Multiple↗