Summary
The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal aberrations were found separately or in combination in a majority of the proband's lymphocytes and fibroblasts. The chromosome number varied from 44 to 50. A high proportion of the metaphases showed PCD or had the appearance of C-anaphases. These findings probably represent a new mutant affecting mitosis and causing mosaic aneuploidies.
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Bajnóczky K, Méhes K (1988) Parental centromere separation sequence and aneuploidy in the offspring. Hum Genet 78:286–288
Bamezai R, Shiraishi Y, Taguchi H (1986) Centromere spreading in a case of megaloblastic anemia “cured” under TC 199 culture conditions. Cancer Genet Cytogenet 20:341–343
Battin J, Stanescu V, Stanescu R, Maroteaux P, Joussein M (1977) Chondrodystrophie secondaire a un trouble de la division cellulaire chez deux jumeaux monozygotiques. Arch Fr Pédiatr 34:233–239
Chamla Y (1988) C-anaphases in lymphocyte cultures versus premature centromere division syndromes. Hum Genet 78:111–114
Chamla Y, Bégueret J (1982) Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. Hum Genet 61:73–75
Chamla Y, Roumy M, Lassègues M, Battin J (1980) Altered sensitivity to colchicine and PHA in human cultured cells. Hum Genet 53:249–253
Fitzgerald PH (1975) A mechanism of X chromosome aneuploidy in lymphocytes of aging women. Hum Genet 28:153–158
Fitzgerald PH, McEwan CM (1977) Total aneuploidy and age-related sex chromosome aneuploidy in cultured lymphocytes of normal men and women. Hum Genet 39:329–337
Fitzgerald PH, Pickering AF, Mercer JM, Miethke PM (1975) Premature centromere division: a mechanism of non-disjunction causing X chromosome aneuploidy in somatic cells of man. Ann Hum Genet 38:417–428
Fitzgerald PH, Archer SA, Morris CM (1986) Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division (PCD). Hum Genet 72:58–62
Freeman MVR, Williams DW, Schimke RN, Temtamy SA, Vachier E, German J (1974) The Roberts syndrome. Clin Genet 5:1–16
Fryns JP, Azou M, Jaeken J, Eggermont E, Pedersen JC, Van den Berghe H (1981) Centromeric instability of chromosomes 1, 9 and 16 associated with combined immunodeficiency. Hum Genet 57:108–110
Gabarrón J, Jimenez A, Glover G (1986) Premature centromere division dominantly inherited in a subfertile family. Cytogenet Cell Genet 43:69–71
Gallo JH, Misawa S, Testa JR (1984) Centromere spreading in acute nonlymphocytic leukemia. Cancer Genet Cytogenet 12:105–109
Galloway SM, Buckton KE (1978) Aneuploidy and ageing: chromosome studies on a random sample of the population using G-banding. Cytogenet Cell Genet 20:78–95
German J (1979) Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing. Clin Genet 16:441–447
Heath CW (1966) Cytogenetic observations in vitamin B12 and folate deficiency. Blood 27:800–815
Howard PJ, Lewis IJ, Harris F, Walker S (1985) Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome. Clin Genet 27:501–505
Hultén M (1978) Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. Clin Genet 14:294
Lamberti L, Bigatti Ponzetto P, Ardito G (1983) Cell kinetics and sister-chromatid-exchange frequency in human lymphocytes. Mutat Res 120:193–199
Littlefield LG, Joiner EE, Sayer AM (1985) Premature separation of centromeres in marrow chromosomes from an untreated patient with acute myelogenous leukemia. Cancer Genet Cytogenet 16:109–116
Madan K, Lindhout D, Palan A (1987) Premature centromere division (PCD): a dominantly inherited cytogenetic anomaly. Hum Genet 77:193–196
Maraschio P, Zuffardi O, Fior TD, Tiepolo L (1988) Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet 25:173–180
Méhes K (1978) Non-random centromere division: a mechanism of non-disjunction causing aneuploidy? Hum Hered 28:255–260
Papi L, Montali E, Marconi G, Guazzelli R, Bigozzi U, Maraschio P, Zuffardi O (1989) Evidence for a human mitotic mutant with pleiotropic effect. Ann Hum Genet 53:243–248
Parry DM, Mulvihill JJ, Tsai S, Kaiser-Kupfer MI, Cowan JM (1986) SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. Am J Med Genet 24:653–672
Petrinelli P, Antonelli A, Marcucci L, Dallapiccola B (1984) Premature centromere splitting in a presumptive mild form of Roberts syndrome. Hum Genet 66:96–99
Römke C, Froster-Iskenius U, Heyne K, Höhn W, Hof M, Grzejszczyk G, Rauskolb R, Rehder H, Schwinger E (1987) Roberts syndrome and SC phocomelia. A single genetic entity. Clin Genet 31:170–177
Rudd NL, Teshima IE, Martin RH, Sisken JE, Weksberg R (1983) A dominantly inherited cytogenetic anomaly: a possible cell division mutant. Hum Genet 65:117–121
Scappaticci S, Cerimele D, Tondi M, Vivarelli R, Fois A, Fraccaro M (1988) Chromosome abnormalities in tuberous sclerosis. Hum Genet 79:151–156
Scheres JHJC, Hustinx TWJ, Madan K, Beltman JD, Lindhout D (1986) A mitotic mutant causing non-disjunction in man (abstract). 9th International Chromosome Conference, Marseilles 1986. Fondation Marcel Merieux, p 159
Stanley WS, Pai GS, Horger EO, Yongshan Y, McNeal KS (1988) Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. Prenat Diagn 8:565–569
Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C (1979) Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum Genet 51:127–137
Tolmie JL, Boyd E, Batstone P, Ferguson-Smith ME, Al Roomi L, Connor JM (1988) Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant? Hum Genet 80:197–200
Tomkins D, Hunter A, Roberts M (1979) Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet 4:17–26
Turleau C, Cabanis M-O, Girault D, Ledeist F, Mettey R, Puissant H, Prieur M, Grouchy J de (1989) Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. Am J Med Genet 32:420–424
Valkova G, Ghenev E, Tzancheva M (1987) Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome. Clin Genet 31:119–124
Vig BK (1981) Sequence of centromere separation: analysis of mitotic chromosomes in man. Hum Genet 57:247–252
Vig BK (1984) Sequence of centromere separation another mechanism for the origin of nondisjunction. Hum Genet 66:239–243
Zhang S (1986) Centromere spreading and out-of-phase chromatid separation in Burkitt's lymphoma and nasopharyngeal carcinoma. Cancer Genet Cytogenet 23:211–217
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Miller, K., Müller, W., Winkler, L. et al. Mitotic disturbance associated with mosaic aneuploidies. Hum Genet 84, 361–364 (1990). https://doi.org/10.1007/BF00196235
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DOI: https://doi.org/10.1007/BF00196235