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Biomedical subjects

J M Scheres

Publications and source records attributed to J M Scheres.

At least 55 records · Page 3Linked to original sources
PubMed1980

A case of AMMoL with 8/21 translocation and loss of the Y as probably secondary events.

The clinical, hematological, and cytogenetic characteristics of a male patient with AMMoL are described. Before treatment a clone with the complex karyotype 45,X,del(7)(q32), t(8;21)(q22;q22) was present in the bone marrow. During partial remission induced by cytostatics, the percentage of normal cells increased, and a cell line having a 46,XY,del(7)(q32) karyotype was found. After four therapy courses, when remission was complete, only chromosomally normal cells were seen. The cytogenetic data suggest that in this case the 8/21 translocation and loss of the Y chromosome were only secondary events.

Antineoplastic Agents↗
PubMed1980

Nomarski-optical studies of human chromosomes R-banded with barium hydroxide.

The morphologic changes occurring in human chromosomes during R-banding by Ba(OH)2 treatment were followed with the aid of bright-field and Nomarski interference contrast microscopy. It was found that the hot Ba(OH)2 pretreatment alone, i.e., without staining, caused a pattern of transverse ridges in the chromosomes that clearly corresponded to positive R-band regions. No chromosomal collapse could be seen during any stage of the R-banding procedure. Thus these events contrast with those observed in G-band formation with trypsin, where complete chromosomal collapse occurs after pretreatment and where staining is necessary to induce G-band ridges. The possible mechanism of R-band induction by Ba(OH)2 is discussed. It is proposed that the R-band ridges arise as a result of chromatin loss from the interband regions during the hot alkaline pretreatment.

Azure Stains↗
PubMed1980

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.

This paper describes the unexpected transmission of a translocation (22;22)(p13;q11) from a mother to her phenotypically normal daughter (the proband). Both women had had multiple abortions. No signs of mosaicism with respect to chromosome No. 22 were found in the proband or in her mother. Until now, it has been generally assumed that carriers of a 22/22 translocation will have only abnormal conceptuses. The transmission of this translocation from a balanced carrier to a phenotypically normal daughter was therefore highly unexpected and is not easy to explain. Early postzygotic loss of a chromosome no. 22 from a trisomic zygote, or fertilization of an oocyte carrying the translocation by a sperm nullisomic for chromosome no. 22 could have led to the balanced chromosome pattern of the proband.

Abortion, Habitual↗
PubMed1979

Karyotype instability with multiple 7/14 and 7/7 rearrangements.

Chromosomes were studied in a mentally retarded boy with microcephaly, growth retardation, facial erythema, café-au-lait spots, and IgA deficiency. In the lymphocytes there was a remarkable tendency to exchange parts of the chromosomes Nos. 7 and 14, the translocations almost exclusively taking place in bands 7p13, 7q32 and 14q11. Seven different types of rearrangements between Nos. 7 and 14, and some other chromosomal aberrations were found. No abnormalities could be detected in the bone marrow. The patient somewhat resembles those affected with ataxia-telangiectasia or with Bloom's syndrome, but on clinical and cytogenetic grounds these disorders could be excluded. 7/14 Translocations similar to those found in our patient's lymphocytes have been reported to occur very rarely in the lymphocyte cultures of individuals with apparently normal chromosome constitution. A relationship between these phenomena may exist.

Child↗
PubMed1978

15/17 translocation in acute promyelocytic leukaemia.

A translocation between a chromosome 15 and a chromosome 17 was found in the bone marrow of a 14-year-old boy who had clinical and laboratory symptoms of acute promyelocytic leukemia (APL). As far as we know, this is the sixth case of APL with 15/17 translocation to be reported in the literature. This observation gives further support to the hypothesis that there is an association between this chromosomal rearrangement and APL.

Adolescent↗
PubMed1978

2:2 and 3:1 meiotic disjunctions in a carrier of a reciprocal 10/14 translocation.

The offspring of a female with a reciprocal whole-arm translocation between a chromosome No. 10 and a chromosome No. 14 is described. She gave birth to three cytogenetically different children: one with a normal, one with an abnormal but balanced, and one with an unbalanced karyotype. In these three cases, 2:2 disjunctions must have occurred during maternal meiosis. She also had a trisomy 14 abortion, which is assumed to have been caused by a 3:1 meiotic disjunction.

Chromosomes, Human, 13-15↗
PubMed1978

A case of partial 9p monosomy with some unusual clinical features.

A patient is described with a karyotype 46,XX,del(9)(qter leads to p22:) and having the main clinical characteristics of pure monosomy for part of the short arm of chromosome No 9, among which craniosynostosis and trigonocephaly. She has also a few atypical features: a clearly advanced osseous maturation, marked congenital vertebral anomalies and unusual dermatoglyphics.

Abnormalities, Multiple↗
PubMed1977

Partial deletion of the long arm of chromosome no. 13.

A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.

Abnormalities, Multiple↗
PubMed1977

Monosomy 7 in two patients with a myeloproliferative disorder.

Clinical and laboratory data are presented for two patients with a dyshaematopoietic disorder, and monosomy 7 in their bone marrow cells. The first patient, a 55-year-old woman, had been treated with chlorambucil for an ovarian carcinoma. After 4 years an oligoblastic myeloid leukaemia was diagnosed and she later died with an acute transformation of the disease. The second patient, a 21-year-old male, has had a dyserythropoietic anaemia with transient pancytopenia for over 5 years without any signs of malignancy. The possible relationship between therapy, the monosomy 7 and the other bone marrow abnormalities is briefly discussed. From an analysis of the data of these and comparable cases in the literature it appears that loss of chromosome No. 7 material is often associated with erythropoietic disorders such as erythroid hyperplasia and erythraemia. The reduction or absence of the Colton blood group antigens found in our patients and in a few other monosomy 7 cases also points to an abnormality of the red cell line.

Adolescent↗
PubMed1977

Bloom's syndrome in two Dutch families.

The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun-sensitivity of the skin; and decreased immuno-competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome. The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister-chromatid exchanges per cell.

Abnormalities, Multiple↗
PubMed1977

The effect of cations on C-band formation in human chromosomes.

A number of salt solutions were tested for their ability to replace 2 X SSC in the production of C-bands with the so-called CT technique. Those containing monovalent cations, except for the ones with Ag+ ions, were capable of inducing C-bands in Ba(OH)2-pretreated human chromosomes. Cesium cations were the most effective in this respect. In contrast to the effect of the monovalent cations studied, di- or polyvalent cations (and Ag+ cations) were incapable of producing C-bands, but appeared to stabilize the Ba(OH)2-induced reverse-banding pattern, This stabilizing effect was obtainable with relatively low cation concentrations and persisted even when C-band-producing cations were present at the same time. The experiments clearly show that the cations present during salt incubations, generally used in the CT- and several other banding methods, can exert a pronounced influence on chromosome behavior.

Cations, Divalent↗
PubMed1976

CT banding of human chromosomes. The role of cations in the alkaline pretreatment.

This paper describes a study of the role of certain cations in the alkaline pretreatment step used in the CT technique for chromosome band formation. Treatment of human chromosomes with ammonium bases or with the hydroxides of the monovalent alkali metals Na, K, or Li resulted in their rapid disintegration, unless very short treatment periods or diluted solutions were used. In the latter cases a subsequent staining produced a weak G-banding pattern. The chromosomes appeared to be much less sensitive to treatment with the hydroxides of the divalent alkaline earth metals Ba, Sr, Ca, and Mg. Staining after exposure to these hydroxides yielded R-banding patterns. The reduced alkali sensitivity of the chromosomes and the reverse banding pattern formation observed are probably the result of a chromatin stabilization by the divalent cations of the alkaline earth metals. It is proposed that not only in the R-band formation with the hydroxides of the alkaline earth metals but also in that obtained by other techniques, chromosome stabilization plays an important role.

Alkalies↗
PubMed1976

Banding of human chromosomes with basic fuchsin.

In this paper a technique is described for the banding of human metaphase chromosomes with basic fuchsin. The main characteristics of the G-banding pattern obtained with this cationic triphenylmethane dye are: the secondary constriction regions of chromosomes Nos. 1 and 16 are strongly stained, especially in the latter one; the heterochromatic area of chromosome No. 9, usually negative with most other G-banding techniques, is clearly visible as an intensely stained band adjacent to the centromere; the chromosomal outline is often very distinct, facilitating the study of the telomeres; a number of chromosomal regions with bright Q fluorescence such as the polymorphic regions of the chromosomes Nos. 3, 4, and Y also stain strongly with basic fuchsin. The basic fuchsin technique combines therefore properties of G-, C-, and Q-banding methods and seems very suitable for use in e.g., family and linkage studies. Several triphenylmethanes closely related to basic fuchsin produce similar banding patterns. The band-producing ability is, however, diminished in those dyes which contain methylated amino groups. If the methyl groups are attached to the carbon atoms at the 3-positions in the phenyl rings, band formation seems unaffected. The way in which basic fuchsin and chromatin may interact as well as the possible mechanism(s) of band formation with this dye are discussed.

Chromosomes↗