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Thirty five female patients with different stages of neoplastic lesions: cervical intraepithelial neoplasia (CIN) or dysplasia (CIN I and CIN II), in situ carcinoma (CIS), and adenocarcinoma, and 27 healthy women (controls) were studied to determine the activity, satellite association, and polymorphism of Ag stained nucleolus organizer regions (Ag+ NORs) in acrocentric chromosomes in metaphases obtained from peripheral blood lymphocytes. For each person, 25 to 50 metaphases stained with ammoniacal silver technique were scored. The average number of Ag+ NORs was higher in women with adenocarcinoma (7.66 +/- 0.72) than in controls (6.65 +/- 0.74). Non-associated chromosomes showing Ag+ NORs were found more frequently in patients (5.85 +/- 0.88) than in controls (4.81 +/- 0.67). Patients aged 30-39 and 60 or more had an increase of Ag+ NORs (7.99 +/- 1.04, and 7.81 +/- 0.71) with respect to their controls (6.36 +/- 0.052 and 6.17 +/- 0.88), but the frequency of satellite association showed lower values in 50-59 year-old patients (0.75 +/- 0.08) than in controls (1.02 +/- 0.19). The most frequent association in patients was the large type (patients = 38.96%, controls = 30.49%). The partial association showed higher values (6.49%) than controls (2.44%). Otherwise, the spherical association was more frequent for controls (37.80%) than for patients (28.57%). All these differences were statistically significant (p < 0.05). The frequency of Ag+ NORs and the type of polymorphism of satellite association could be related to the neoplastic process, while the frequency of satellite association and of polymorphism of Ag+ NORs seems to be irrelevant.

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Thirty five female patients with different stages of neoplastic lesions: cervical intraepithelial neoplasia (CIN) or dysplasia (CIN I and CIN II), in situ carcinoma (CIS), and adenocarcinoma, and 27 healthy women (controls) wee studied to determine the activity, satellite association, and jpolymorphism of Ag stained nucleolus organizer regions (Ag+NORs) in acrocentric chromosomes in metaphases obtained from peripheral blood lymphocytes. For each person, 25 to 50 metaphases stained with ammoniacal silver technique were scored. The average number of Ag+ NORs was higher in women with adenocarcinoma (7.66 ñ 0.72) than in controls (6.65 ñ 0.74). Non-associated chromosomes showing Ag+ NORs were found more frequently in patients (5.85 ñ 0.88) than in controls (4.81 ñ 0.67). Patients aged 30-39 and 60 or more had an increase of Ag+ NORs (7.99 ñ 1.04, and 7.81 ñ0.71) with respect to their controls (6.36 ñ 0.052 and 6.17 ñ 0.88), but the frequency of satellite association showed lower values in 50 -59 year-old patients (0.75 ñ 0.08) than in controls (1.02 ñ 0.19). The most frequent association in patients was the large type (patients = 38.96 perecent, controls 30.49 ). The partial association showed higher values (6.49 percent) than controls (2.44 percent). Otherwise, the spherical association was more frequent for controls (37.80 percent) than for patients (28.57 percent). All these differences were statistically significant (p<0.05). The frequency of Ag+ NORs and the type of polymorphism of satellite association could be related to the neoplastic process, while the frequency of satellite association and of polymorphism of Ag+ NORs seems to be irrelevant

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The authors describe a combination of Duchenne muscular dystrophy and congenital ichthyosis in a 6.5-year-old boy. This is the first ever description appearing in the world literature. The authors discuss possible variants of mutation (either chromosomal aberration or two independent gene mutations in chromosome 21).

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Among ten families with de novo 21/21 translocation Down syndrome (tDS), four were informative, according to the studies of structural variants of chromosome 21, about the origin of the aberrant chromosome. In three of these, the translocation originated in the paternal and in one in the maternal gametogenesis. The parents with meiotic failure were compared with 20 control individuals (10 males and 10 females). There were no significant differences between them in the association coefficient of chromosome 21 and in the frequency of 21-21 associations. Similar results were obtained previously with the entire sample of tDS parents. The results obtained, unless they reflect too small a sample, suggest that the origin of the aberrant chromosome is not related to an increased chromosome 21 association tendency. It could be supposed that in the case of an apparent 21/21 translocation, the 21q isochromosome, morphologically indistinguishable from the Robertsonian translocation, is in question. The Ag-NOR negative acrocentrics in the tDS parents reappeared in the probands confirming the heritability of that nucleolus organizer regions (NOR) trait.

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A newborn girl, homozygous for a balanced Y/22 chromosome translocation is described. This unique karyotype was detected during prenatal chromosome studies in the first pregnancy of a 26-year-old woman. Amniocentesis was performed because of clinical evaluation of severe fetal growth retardation in the 28th week of gestation. The cytogenetic results were confirmed using a lymphocyte culture after birth in the 30th week. Subsequent chromosome studies of the parents were hampered by the fact that the pregnancy was thought to be the result of artificial insemination with donorsperm. Nevertheless both, consanguineous, parents were shown to be carriers of the same, singular, chromosome translocation and the spermdonor could be excluded from paternity by bloodgroup- and HLA studies. Distamycin-A-DAPI chromosome staining and DNA studies of the mother were used to confirm the involvement of the Y-chromosome in this translocation. The probanda is developing quite normally at the age of 21 months.

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In chronic myelogenous leukemias (CML) with the t(9;22)(q34;q11) chromosome translocation the breakpoints on chromosome 22 occur within a 5.8-kilobase segment of DNA referred to as "breakpoint cluster region" (bcr). The same cytogenetically indistinguishable translocation occurs in approximately 10% of patients with acute lymphocytic leukemias (ALL). In this study we have investigated the chromosome breakpoints in several cases of ALL carrying the t(9;22) translocation. In three of five cases of ALL we found that the bcr region was not involved in the chromosome rearrangement and that the 22q11 chromosome breakpoints were proximal (5') to the bcr region at band 22q11. In addition, we observed normal size bcr and c-abl transcripts in an ALL cell line carrying the t(9;22) translocation. We conclude, therefore, that if c-abl is inappropriately expressed in ALL cells without bcr rearrangements, the genetic mechanism of activation must be different from that reported for CML.

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Recurrent leukaemia following bone marrow transplantation is most often due to the regrowth of original host leukaemia cells, but may also be due to the malignant transformation of normal donor marrow cells after transplantation into a leukaemia patient. We report the ninth case of malignant change in cells of donor origin in a 12-year-old boy who was originally diagnosed as having Ph1+ CML. He remained Ph1+ during lymphoid blast crisis. After transplantation with marrow from a cytogenetically normal sister, he relapsed to Ph1- ALL in the female donor cells. The marrow showed a mixed karyotype of 46,XX/46,XX,inv(9)(p12q12). It would appear that, haematologically, the patient showed different manifestations of the same disease state. Cytogenetically, however, the pre- and post-transplant leukaemias were different.

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The indeces of frequency of associations of acrocentric chromosomes in lymphocytes of human peripheral blood were compared with the help of different criteria of their estimation: by argentofile connections and by specific location of acrocentrics in metaphase plate. It was shown by the methods of variation statistics that the specificity of orientation of associative acrocentric chromosomes towards each other by short arms to the distance equal to the length of G-chromosome long arm is not accidental. Therefore, the method elaborated on the basis of the estimation criteria reflects participation of acrocentric chromosomes association in the formation of general nucleus in interphase more completely than the Ag-method, as preservation of Ag-material depends on the extent of its resorbtion in mitosis.

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The short arms of the acrocentric chromosomes are among the most common sites in which to find human chromosomal heteromorphisms. Heteromorphic chromosomes are noted for their variability between individuals and populations; however, they generally are consistent within an individual. Contrary to this general rule, a normal female was found to have a giant satellite on the short arm of a chromosome 22 in most lymphocytes and fibroblasts, but in other cells, it was attached to a chromosome 21. Furthermore, in some cells, it was found on multiple chromosomes, that is, on both 22's or on a 21 and a 22. The familial nature of this heteromorphism was established when it was found in the woman's mother, where it was confined exclusively to chromosome 22. These results suggest an unstable giant satellite associated with both G-group chromosomes of a normal individual. Results are discussed in the light of the patient's occupational exposure to insecticides at a mushroom farm.

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To investigate the role of intensive chemotherapy in chronic myelogenous leukemia (CML), we treated 37 patients who had Philadelphia-positive benign-phase disease with rubidazone 300 mg/m2/d 1 (or daunorubicin 30 mg/m2/d X 4), cytosine arabinoside 80 mg/m2/d X 10, vincristine 2 mg/d 1, and prednisone 100 mg/d X 5 (ROAP 10), every four weeks for a median of three cycles. This treatment was followed by splenectomy and by subsequent maintenance therapy with 1 to 5 g hydroxyurea daily in intermittent courses. After a median follow-up of 42 months (range, 24 to 54 months), 20 patients (54%) remain in benign phase. The projected median survival is 52 months, and the three-year survival rate is 67%. Six patients (16%) developed blastic crisis, and eight died in the benign phase. A significant cytogenetic response, defined as a fall in the percentage of Philadelphia-positive cells to less than or equal to 30%, occurred in 18 (53%) of 34 patients who had serial cytogenetic studies. Six patients (18%) had reductions to 35% to 90%, whereas ten remained 100% positive. Cytogenetic response lasted for a median of six months from the time of maximal response (range, 1 to 18 months). Blastic crisis or accelerated disease developed in seven (44%) of the 16 patients who manifested minimal or no cytogenetic response, compared to only two of the 18 patients (11%) who achieved a significant cytogenetic response. Toxicity, which resulted in one death, was due to myelosuppression and consisted of febrile episodes during neutropenia (24% of courses), documented infections (8% of courses), and bleeding (8% of courses). ROAP 10 intensive therapy produces moderate survival improvement for CML patients compared to a matched historical control group of patients treated at our institution, but it has considerable myelosuppressive toxicity. The Philadelphia chromosome response is an important treatment-related prognostic factor.

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The authors report a patient with Ph1-positive chronic granulocytic leukemia (CGL) who developed "blast crisis" after six years of chronic phase. The presence of mast cell precursors and basophil blasts was demonstrated by ultrastructural morphology and cytochemistry. Membrane phenotype studies with monoclonal antibodies helped in the further characterization of these cells. The possible implication of these findings in the origin of mast cells and the relationship of these cells with basophils are discussed.

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Recent progress in cytogenetics and molecular genetics allows striking new insight into Burkitt's lymphoma. In this B cell tumor, the oncogene c-myc located on the long arm of chromosome 8 translocates to one of three locations: adjacent to the immunoglobulin heavy chain gene on chromosome 14, adjacent to the gene for the kappa light chain of immunoglobulin on chromosome 2, or adjacent to the gene for the lambda light chain on chromosome 22. Nucleotide sequence analysis indicates that the translocated c-myc is usually upstream of an immunoglobulin constant region gene, although the exact position varies. In its new location, the oncogene is actively transcribed and may have escaped its normal control mechanisms. It can be no coincidence that this B cell lymphoma is intimately associated with a misadventure in the genetic underpinnings of the major event in B cell differentiation, the assembling of a functional immunoglobulin molecule. Similar genetic catastrophes probably account for the more common B cell lymphomas and could provide the basis of a coherent lymphoma classification.

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A 7-year-old Japanese boy with Ph1-positive-lymphoblastic lymphoma is described. The diagnosis was based on biopsied tonsils which were enlarged at the time of admission. On the eighth day after admission an enlarged mediastinal mass was detected on a chest X-ray film. The lymphoblasts which appeared in the peripheral blood and bone marrow proved to be T-cells. Chromosome studies on the bone marrow cells revealed two abnormal cell lines; one had a 7;11 translocation and the other a 7;11 translocation and a 9;22 translocation, forming the Ph1-chromosome. The latter line with the Ph1-chromosome was considered to have been derived from the former line without the Ph1. Our findings show that the Ph1-chromosome may be a secondary change in the course of karyotypic evolution.

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