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H Van Den Berghe

Publications and source records attributed to H Van Den Berghe.

At least 19 recordsLinked to original sources
PubMed1992

Chromosome changes in a case of hibernoma.

Cytogenetic analysis of a rare adipose tissue tumor, hibernoma, a benign proliferation of the brown fat, is presented for the first time. A complex translocation involving bands 1p36, 2q33, 5q22, and 11q13 was found as the sole chromosome abnormality.

Chromosomes, Human, Pair 1↗
PubMed1992

The 6p21 chromosome region is nonrandomly involved in endometrial polyps.

An inverted chromosome 6, at bands p21 and q22, has been found as the sole chromosome abnormality in an endometrial polyp from a 50-year-old woman. Since two out of three previously reported endometrial polyps showed a rearrangement of the same band 6p21, the nonrandom involvement of the terminal region of the short arm of chromosome 6 in this benign tumor can be supported.

Chromosome Inversion↗
PubMed1992

Cytogenetic and molecular studies of the Philadelphia translocation in myelodysplastic syndromes. Report of two cases and review of the literature.

We report two patients with a myelodysplastic syndrome and the Philadelphia (Ph) chromosome. The first patient was a 73-year-old man who was diagnosed as having a chronic myelomonocytic leukemia in combination with features suggestive of a myeloproliferative syndrome. Chromosomal analysis showed a normal karyotype in the majority of cells, mixed with metaphases containing a standard Ph translocation, t(9;22)(q34;q11), as well as a translocation between chromosome 4 and 6: t(4;6)(p15;p12). Southern blot analysis showed breakpoint cluster region rearrangement as observed in classic chronic myeloid leukemia. The second patient was a 63-year-old man with a myelodysplastic syndrome, type refractory anemia. Cytogenetic study of bone marrow cells at the time of diagnosis revealed a normal karyotype: 46,XY. The initial myelodysplastic syndrome evolved to a myeloproliferative phase with progressive leukocytosis and thrombocytosis. During the terminal phase the Ph chromosome was discovered in 100% of the examined cells. We discuss the correlation between MDS and myeloproliferative diseases, the de novo acquisition of the Ph chromosome during the course of a myelodysplastic syndrome, and review the literature.

Aged↗
PubMed1992

Involvement of 19q13 in follicular thyroid adenoma.

Cytogenetic investigation of a follicular thyroid adenoma from a 31-year-old woman showed a t(16;19)(q12;q13), as the sole chromosome abnormality. As five more cases with 19q13 involvement have been described, we suggest that the terminal region of the long arm of chromosome 19 is important for the development of follicular thyroid adenoma.

Adenoma↗
PubMed1992

Hypomelanosis of Ito and severe sensorineural deafness.

In this report we describe an 8-year-old boy of Algerian origin with profound sensorineural deafness and skin pigmentation anomalies consistent with the diagnosis of hypomelanosis of Ito. On the basis of this observation the etiologic heterogeneity of this condition is discussed.

Abnormalities, Multiple↗
PubMed1991

Cultured human fibroblasts contain a large pool of precursor beta 1-integrin but lack an intracellular pool of mature subunit.

Previous work has shown the presence of an important intracellular pool of beta 1-integrin subunit in human skin fibroblasts as detected with monoclonal antibody DH12 [De Strooper, B., Van der Schueren, B., Jaspers, M., Saison, M., Spaepen, M., Van Leuven, F., Van den Berghe, H. & Cassiman, J. J. (1989) J. Histochem. Cytochem. 37,299-307]. To analyze this more quantitatively, a radioimmunoassay with radioiodinated monoclonal antibody was developed. The total amount of specific binding sites for monoclonal antibody DH12 on skin fibroblasts was between 0.8-1.5 x 10(6)/cell. After permeabilizing the cells with digitonin, a threefold increase in specific binding was observed, which suggested that about 60% of the total amount of beta 1-subunit was localized intracellularly. From pulse/chase experiments, it was deduced that an important pool of precursor subunit, as defined by its sensitivity to endoglycosidase treatment, existed in fibroblasts. Since in steady-state-labeling conditions, at least three to four times more precursor than mature subunit was immunoprecipitated with monoclonal antibody DH12, we suggested that the intracellular pool of beta 1-integrin subunit is mainly precursor pool. This precursor pool contains a degradation compartment and a maturation compartment. Other investigators have found evidence for a recirculating pool of mature integrin in Chinese hamster ovary cells. Therefore, the presence of a recirculating pool of integrin in human fibroblasts was also considered. The data obtained with mAb DH12 showed that less than 10% of the surface pool of integrin was internalized by endocytosis. Since, however, cross linking of beta 1-integrins with polyclonal antibodies leads to rapid endocytosis of most of the integrin, it remains possible that the quantitatively small effect was actually an artefact induced by the divalent mAb. We conclude that the intracellular pool of beta 1-integrins observed in our previous studies consists of precursor and that in skin fibroblasts no mature beta 1-integrin is available intracellularly for rapid quantitative modulations at the cell surface.

Acetylglucosaminidase↗
PubMed1991

Cytogenetic characterization of three cases of unusual B-cell non-Hodgkin's lymphoma.

We report the cytogenetic results in three cases of B-cell non-Hodgkin's lymphomas with morphologic and immunophenotypic features compatible with a non-follicle center cell lymphoma. In all cases, a chromosome breakpoint at 14q32 and structural abnormalities of 1p were found. Increased copies of chromosome segment 12q and structural rearrangements of chromosome 6 were found in two cases. Translocation (14;18)(q32;q21) with rearrangement of bcl-2 was found in one case. These lymphomas have a perifollicular growth pattern and IgM+, IgD+, CD10-, and CD22+ immunophenotype features typical of non-follicle center cell lymphomas and probably belong to the follicle mantle lymphomas described recently. Little cytogenetic data about this group of lymphomas is available, possibly because in the Working Formulation for the Classification of Lymphomas they are not separated from follicle center cell lymphomas.

Adult↗
PubMed1991

On the excess of mental retardation and/or congenital malformations in apparently balanced reciprocal translocations. A critical review of the Leuven data 1966-1991.

In this report we review 286 reciprocal translocations (rcpt) diagnosed in Leuven in the period 1966, mid 1991. They were selected from a total number of 82,000 patients karyotyped for constitutional reasons. Special attention is paid to: (1) the phenotypic effect of de novo reciprocal chromosomal rearrangements and (2) the incidence of mental retardation/congenital malformations (MR/CM) in familial rcpt. Important conclusions of this study were: 1) The high incidence of MR/CM in de novo rcpt, not only in patients with complex chromosomal rearrangements (greater than 80%) but also in patients with classical two breaks rcpt (greater than 60%). In contrast, the phenotypic effect of normal/mosaic rcpt seems to be minimal. 2) The overall incidence of MR/CM in carriers of familial balanced rcpt was 6.4%. Interestingly, the incidence of MR/CM problems in rcpt carriers from families detected because of reproductive failure was not increased (2.3%). However, the risk to find MR/CM in a rcpt carrier was much higher (12.8%) if he/she belonged to a family in which the rcpt was detected in an index patient with MR/CM.

Congenital Abnormalities↗
PubMed1991

X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?

In this report, we present two further examples of X-linked mental retardation with Marfanoid habitus. Follow-up data on these two patients reveal that the clinical diagnosis of this syndrome is extremely difficult, if not impossible before puberty, as the Marfanoid habitus only becomes strikingly evident during adolescence.

Abnormalities, Multiple↗
PubMed1991

Increased head circumference and facial cleft as presenting signs of the nevoid basal-cell carcinoma syndrome.

We report a child with nevoid basal-cell carcinoma syndrome (NBCCS) who showed an enlarged head circumference and cleft lip/cleft palate as sole signs of this syndrome at birth. Careful follow up and re-evaluation of this patient enabled us to diagnose the syndrome. Moreover, inspection of her father and sister indicated that they were also affected. An updated review of reported cases indicates that facial cleft occurs in approximately 5% of NBCCS patients. Various aspects of the disease and general measures for its monitoring and treatment are briefly discussed.

Adolescent↗
PubMed1991

A variant translocation t(2;18) in follicular lymphoma involves the 5' end of bcl-2 and Ig kappa light chain gene.

We have examined three cases of human lymphoma bearing a t(2;18)(p11;q21) chromosome translocation. The bcl-2 gene appeared to be rearranged in all three cases and breakpoints were clustered in the 5' flanking region of the gene. In all three cases, bcl-2 was juxtaposed to J segments of the Ig kappa gene. This juxtaposition of the bcl-2 and Ig kappa genes is very similar to the variant chromosome translocations of Burkitt lymphoma that juxtapose the c-myc locus to IgL genes.

Adult↗