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S R Patil

Publications and source records attributed to S R Patil.

At least 55 records · Page 3Linked to original sources
PubMed1987

AluI-resistant chromatin of chromosome 18: classification, frequencies and implications.

The pericentric chromatin of chromosome 18 was found to be far more heterogeneous for restriction endonuclease AluI (5'...AG decrease CT...3') than previously thought. The extent of such heterogeneity was characterized using 50 normal Caucasians and 5 cases of trisomy 18 or Edwards' Syndrome. The AluI-resistant chromatin can arbitrarily be classified into at least five sizes by comparison with the length of the short arm (p) of chromosome 18. They are: negative (1), small (2), medium (3), large (4) and very large (5) with incidences of 11.30%, 19.13%, 29.57%, 29.57% and 10.43%, respectively. In addition the location of the chromatin can be classified into four types depending upon the position relative to the primary constriction. For example: Type I (absent); Type II (present on p arm only); Type III (present on q arm only); Type IV (present on centromere and extending into both p and q arms). The incidences of types I, II, III, and IV were 11.30%, 62.61%, 0.87%, and 25.22%, respectively. Based on limited data, AluI-resistant chromatin was found to be predominantly "large" and "very large" in Edwards' Syndrome samples. In addition, no case with negative Alu-resistant chromatin was noted. Therefore, it is tempting to speculate that the amount of chromatin present on the centromere might play a role in non-disjunction in Edwards' Syndrome cases. Although the variation observed in the present study is continuous, the proposed classification has some important implications for future investigations.

Cells, Cultured↗
PubMed1987

Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment.

A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ and 11q- syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasized.

Abnormalities, Multiple↗
PubMed1986

Cytogenetic analysis of adult acute lymphoblastic leukemia including a Ph+ case surviving more than 5 years.

We have performed cytogenetic analysis on 25 consecutive adult patients with previously untreated acute lymphoblastic leukemia (ALL) who were subsequently treated with the same protocol at this institution. Ten of the 25 patients studied (40%) demonstrated karyotypic abnormalities. The most frequent abnormalities were hyperdiploidy (six patients) and presence of the Philadelphia (Ph) chromosome (three patients). Univariate analysis of 12 features identified only immunophenotype as differing between patients with abnormal and normal karyotype. The cells of patients with an abnormal karyotype were more often non-B, non-T and less often T cell in phenotype. One patient initially with Ph remains cytogenetically normal in complete remission 272 weeks post diagnosis. We confirm that cytogenetic abnormalities are frequent in adult ALL. The attainment of disease free survival in Ph-positive ALL of more than 5 years with persistently normal cytogenetics demonstrates that aggressive multimodal therapy can induce long-term remissions and possible cure of this usually unfavorable situation.

Adolescent↗
PubMed1986

Sister chromatid exchange analysis in nurses handling antineoplastic drugs.

Sister chromatid exchange (SCE) analyses were carried out in hospital nurses to determine whether an increased frequency of SCE may be used as an indicator of occupational exposure to potentially harmful antineoplastic drugs. In our study of 18 oncology nurses who handled these agents for an average of three days per week, we found no increase in mean SCE frequency (9.3 +/- 1.7 SCEs/cell) and no difference in the distribution of individual mean SCE frequencies compared to a group of 18 nurses who did not handle these drugs (9.5 +/- 1.5 SCEs/cell). There was a great deal of individual variation in mean SCE frequency as well as in SCE values in individual cells. No relationship with SCE frequency was found in terms of a subject's age, or the number of days of exposure to the drugs. Since conflicting results have been reported in persons handling antineoplastic drugs, SCE analysis alone is probably not a reliable indicator of exposure to possible mutagenic/carcinogenic effects of these drugs. SCE analysis may be helpful in conjunction with other studies, such as an analysis of urinary mutagens, or in studies of occupational exposure to agents other than antineoplastic drugs which may have a more noticeable effect on SCE frequency.

Adult↗
PubMed1984

Evolution to eosinophilic leukemia with a t(5:11) translocation in a patient with idiopathic hypereosinophilic syndrome.

The idiopathic hypereosinophilic syndrome (HES) comprises a diverse group of diseases that may ultimately lead to multiorgan dysfunction and death. We present a case of a man who was followed for over 9 years with HES that underwent malignant transformation to acute leukemia with eosinophilic features. The patient's clinical acceleration was accompanied by the development of a malignant clone that was identified with banding techniques as 46,XY,t(5:11)(p15;q13). Electron microscopy reaffirmed findings reported in earlier cases of eosinophilic leukemia. At no time during his illness were cytotoxic drugs administered. In addition to delineating the natural evolution and cytostructural details of the case, we emphasize the role of cytogenetics in the predicting of malignant variants of the hypereosinophilic syndrome and in identifying eosinophilic leukemia.

Aged↗
PubMed1984

Marrow transplantation for stable-phase chronic granulocytic leukemia.

Ten patients with chronic granulocytic leukemia in the stable phase underwent marrow transplantation from HLA-identical siblings (nine cases) or an identical twin (one case) following preparation with cytarabine, cyclophosphamide, and total body irradiation. Marrow cytogenetics on all patients prior to transplantation revealed the Philadelphia chromosome without other evidence of aneuploidy. The immediate posttransplant course was in most cases relatively uncomplicated with only two serious infections and one death. All patients recovered with cytogentically normal marrow and leukemia has recurred only in the syngeneic transplant recipient. At present, nine patients are surviving from 358 to 961 days (median 597 days) after bone marrow transplantation. Bone marrow transplantation is capable of eliminating the abnormal clone of myeloid cells in patients with stable-phase chronic granulocytic leukemia and can be performed relatively safely in this "healthy" group of patients.

Adolescent↗
PubMed1983

First report of mosaic trisomy 12 in a liveborn individual.

Trisomy 12 mosaicism was found in a 36-year-old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a "complete" trisomy 12 in a liveborn individual.

Abnormalities, Multiple↗
PubMed1983

Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome.

Two unrelated children with features of Beckwith-Wiedemann syndrome have been found to have partial duplication of chromosome 11p. A review of six other reported cases of partial duplication of 11 p revealed features of this syndrome not previously recognized. We suggest that karyotype studies with banding techniques should be done in children with features of Beckwith-Wiedemann syndrome and developmental delay or retardation.

Beckwith-Wiedemann Syndrome↗
PubMed1983

Correlation of unstable multidrug cross resistance in Chinese hamster ovary cells with a homogeneously staining region on chromosome 1.

An enrichment selection method using repeated pulses of low drug concentration (1 microgram/ml) was used to isolate CHO (AK412) variants that are 20-fold more resistant to cytochalasin D (CD). CD-resistant (CydR) variants possess a unique unstable phenotype, including a longer doubling time in nonselective medium, a higher frequency of multinucleate cells in the population (probably due to a defect in cytokinesis), an altered morphology, and increased resistance or sensitivity to a number of unrelated drugs. In each of two variant lines examined cytologically, this multiple phenotype is associated with a small homogeneously staining region on chromosome 1. The homogeneously staining region is present in the CydR variants, but absent both in the CD-sensitive parent and in a CD-sensitive revertant subpopulation. Studies of CD-displaceable binding of [3H]cytochalasin B show a fourfold reduction in CD binding or uptake when whole cells of the variant line were examined. Lactoperoxidase-catalyzed iodination and metabolic labeling with [H3]fucose of cell surface proteins of the CydR variants showed multiple differences in electrophoretic band migration when compared with parental proteins.

Animals↗
PubMed1981

Deletions of different segments of the long arm of chromosome 4.

We report the clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4. Four of these patients appear to have terminal deletions beginning in band 4q31, and therefore, lack the digital 1/3 of the long arm of chromosome 4. We confirm that deletion of 4q31 leads to qter causes a recognizable syndrome, and we further define the phenotype of that syndrome. A 5th patient has a horter terminal deletion, ie, 4q33 leads to qter. This deletion causes a milder phenotypic expression than that seen in the severe 4q terminal-deletion syndrome. The remaining 3 patients have interstitial deletions of the long arm of the 4th chromosome, including segments 4q21.1 leads to q25, 4q21.3 leads to q26, and 4q27 leads to q31.3. The phenotypic expression noted in these patients is variable in differs from the 4q terminal-deletion syndrome.

Abnormalities, Multiple↗
PubMed1981

Partial trisomy 13: the myth of nonmongoloid trisomy G.

Reexamination of the chromosomes of a patient previously reported as having trisomy 22 yielded a partial trisomy of chromosome 13. Observations led to the conclusion that not every trisomy of a small acrocentric autosome in an individual without mongoloid features represents trisomy 22. Chromosomal analysis, preferably with a high resolution banding, of the parents may help in establishing the correct provenance of the extra chromosomal fragment. The clinical picture of partial trisomy of the proximal portion of chromosome 13 is fairly typical, yet by no means pathognomonic.

Child↗
PubMed1980

Mechanisms of Giemsa banding. II. Giemsa components and other variables in G-banding.

We investigated the capability of individual thiazins in Giemsa mixture (methylene blue and azures A, B, and C) and of two related dyes (toluidine blue and thionin) to produce G-banding. We further tested the effects of variations of buffer composition and concentration, dye concentration, and staining time. G-banding was produced by all of the dyes at low concentrations, although differences were noted. Overall, methylene blue and azure B produced the best banding, azures A, C, and toluidine blue produced moderately good banding, and thionin produced poor banding. This order did not appear to be altered essentially by different treatments. The optimal conditions for G-banding for all dyes and treatments included the use of (1) 0.025-0.05 M phosphate buffer, (2) dye concentrations of 0.002%--0.005%, and (3) staining times of 6--15 min.

Azure Stains↗
PubMed1980

Silver staining and the 17ps chromosome.

Lack of silver staining of a variant chromosome 17 and its failure of involvement in satellite association indicate that this variant is a heteromorphism rather than a translocation of satellited material from any other acrocentric chromosome.

Abortion, Habitual↗
PubMed1980

Partial 8p- syndrome.

A terminal deletion in the short arm of chromosome 8 (:p21 leads to qter) was found in a two years old girl with dysmorphic craniofacial features and developmental retardation. Clinical features are compared with previously published cases and suggest a recognizable syndrome.

Child, Preschool↗