Full text in pdf format

Decreased proportion of B cells in lectin-stimulated lymphocyte cultures from patients with Pallister-Killian syndrome

Marcelo L. Larramendy^I,II

^ILaboratorio de Citogenética y Cátedra de Citología, Facultad de Ciencias Naturales, Universidad Nacional de La Plata, Paseo del Bosque s/n, 1900 La Plata, Argentina. Tel.: 54-21-1727. Fax: 54-21-530189. E-mail: Marcelo.Larramendy@Helsinki.Fi
^IIDepartment of Medical Genetics, University of Helsinki, Finland

ABSTRACT

The response to lectins of lymphocytes from Pallister-Killian syndrome patients was studied. Blood lymphocytes were cultured in the presence of phytohemagglutinin or pokeweed mitogen for 96 h. The cells were identified using the MAC (morphology, antibody, chromosomes) technique which enables the immunological identification of both mitotic and non-proliferating cells in unfractionated lymphocyte populations. The proportion of B (CD20/22+) and T (CD3+) cells at the start of culturing was equal in the Pallister-Killian syndrome and control samples. After culturing, the proportion of interphase and mitotic CD20/22+ cells was significantly lower, and that of CD3+ cells higher in Pallister-Killian syndrome cultures compared with control cultures. This result may be explained by the inability of B lymphocytes from Pallister-Killian syndrome patients to respond to stimulation by phytohemagglutinin or pokeweed mitogen, or by a selective loss of B cells during culturing in vitro.

Keywords: B cells; lectin-stimulated; lymphocyte cultures; Pallister-Killian syndrome.

REFERENCES

Bianchi, N.O., Bianchi, M.S. and Larramendy, M.L. (1979). Kinetics of human lymphocyte division and chromosomal radiosensitivity. Mutat. Res. 63: 317-324.

Böyum, H.C. (1968). Isolation of leukocytes from human blood. Further observations. Scand. J. Clin. Lab. Invest. 21 (Suppl. 97): 31-50.

Crzanowska, K. and Fryns, J.P. (1989). La tétrasomie 12p (Syndrome de Pallister-Killian): un diagnostic possible avant rage d'un an. J. Génét. Hum. 37: 259-261.

Cordell, J.L., Falini, B., Erber, W.N., Ghosh, A.K., Abdulaziz, Z., MacDonald, S., Pulford, K.A.F., Stein, H. and Mason, D.Y. (1984). Immunoenzymatic labeling of monoclonal antibodies using immune complexes of alkaline phosphatase and monoclonal anti-alkaline phosphatase (APAAP complexes). J. Histochem. Cytochem. 32: 219-229.

Fryns, J.P., Petit, P., Vinken, L., Geutjens, J., Marien, J. and van der Berghe, H. (1982). Mosaic tetrasomy 21 in severe mental handcap. Eur. J. Pediatr. 139: 87-89.

Gorlin, R.J., Cohen, M.M. and Levin, L.S. (1990). Pallister-Killian syndrome (mosaic tetrasomy 12p, isochromosome 12p syndrome). In: Syndromes of the Head and Neck (Gorlin, R.J., Cohen, M.M. and Levin, L.S., eds.). Oxford University Press, New York, pp. 86-88.

Greig, G.M., Parikh, S., George, J., Powers, V.E. and Willard, H.F. (1991). Molecular cytogenetics of a satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms. Cytogenet. Cell Genet. 56: 144-148.

Hall, B.D. (1985). Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time. Clin. Genet. 27: 284-286.

Hunter, A.G.W., Clifforf, B., Speevak, M. and MacMurray, M. (1982). Mosaic tetrasomy 21 in a liveborn male infant. Clin. Genet. 21: 228-232.

Keinänen, M., Griffin, J.D., Bloomfield, C., Machnicki, J. and de la Chapelle, A. (1988). Clonal chromosomal abnormalities showing multiple-cell-lineage involvement in acute myeloid leukemia. N. Engl. J. Med. 318: 1153-1158.

Knuutila, S. and Teerenhovi, L. (1989). Immunophenotyping of aneuploid cells. Cancer Genet. Cytogenet. 41: 1-17.

Knuutila, S., Larramendy, M.L., Ruutu, T., Paetau, A., Heinonen, K. and Mahlamäki, E. (1993). Analysis of phenotype and genotype of individual cells in neoplasms. Cancer Genet. Cytogenet. 68: 104-113.

Knuutila, S., Nylund, S.J., Wessman, M. and Larramendy, M.L. (1994). Analysis of genotype and phenotype on the same interphase or mitotic cell: a manual of MAC (Morphology Antibody Chromosomes) methodology. Cancer Genet. Cytogenet. 72: 1-15.

Kwee, M.L., Barth, P.G., Arwet, F. and Madan, K. (1984). Mosaic tetrasomy 21 in a male child. Clin. Genet. 26: 150-155.

Larramendy, M.L., Kovanen, P.E. and Knuutila, S. (1992). MAC (Morphology, Antibody, Chromosomes) method for study of cell proliferation in unfractionated human hematopoietic cell cultures. J. Histotechnol. 15: 31-38.

Larramendy, M.L., Heiskanen, M., Wessman, M., Ritvanen, A., Peltomäki, P., Simola, K., Kääriäien, H., von Koskull, H., Kähkönen, M. and Knuutila, S. (1993). Molecular cytogenetic study of patients with Pallister-Killian syndrome. Hum. Genet. 91: 121-127.

López, V., Mak, E. and Wyatt, P.R. (1985). Prenatal diagnosis of tetrasomy 21. Prenat. Diagn. 5: 233-235.

Pallister, P.M., Meisner, L.F., Elejalde, B.R., Fracke, U., Herrmann, J., Spranger, J., Tiddy, W., Inhorn, S.L. and Opitz, J.M. (1977). The Pallister mosaic syndrome. Birth Defects: Original Article Series 13: 103-110.

Peltomäki, P., Knuutila, S., Kaitila, I. and de la Chapelle, A. (1987). Pallister-Killian syndrome: cytogenetic and molecular studies. Clin. Genet. 31: 399-405.

Soukup, S. and Neidich, K. (1990). Prenatal diagnosis of Pallister-Killian syndrome. Am. J. Med. Genet. 35: 526-528.

Speleman, F., Leroy, J., van Roy, N., De Paepe, A., Suijkerbuijk, R., Brunner, H., Looijenga, L., Verschraegen, M.R. and Orye, E. (1991). Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. Am. J. Med. Genet. 41: 381-387.

Steinbach, P. and Rehder, H. (1987). Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+í(12p)) and a marked LDH-B gene dosage effect. Clin. Genet. 32: 1-4.