Summary
Information is presented which has been obtained from an exhaustive examination of 44 probands with a supernumerary marker chromosome (mar) and their families. The data include the derivation of the mar, frequency in various populations, inheritance and possible effect on fertility, congenital abnormality, and mental ability. The practical problems in assessing the risk of abnormality in a foetus discovered during prenatal diagnosis to be carrying a mar, are discussed.
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References
Aitken J, Brunton M, Jacobs PA, Price WH, MacColl K (1971) Chromosome studies on male patients at a mental subnormality hospital. Clin Genet 2:338–346
Angell RR, Aitken RJ, van Look PFA, Lumsden MA, Templeton AA (1983) Chromosome abnormalities in human embryos after in vitro fertilization. Nature 303:336–338
Ayraud N, Noel B, Lloyd M, Letourneau J, Martinon J (1976) A small supernumerary metacentric chromosome: interpretation test. J Genet Hum 24:81–93
Bernstein R, Hakim C, Hardwick B, Nurse GT (1978) Significance of detection of extra metacentric microchromosomes in amniotic cell culture. J Med Genet 15:136–142
Bloom SE, Goodpasture C (1976) An improved technique for selective silver staining of nucleolar organiser regions in human chromosomes. Hum Genet 34:199–206
Buckton KE, O'Riordan ML, Ratcliffe S, Slight J, Mitchell M, McBeath S, Keay AJ, Barr D, Short M (1980) A G-band study of chromosomes in liveborn infants. Ann Hum Genet 43:227–239
Buckton KE, Whalley LJ, Lee M, Christie JE (1983) Chromosome changes in Alzheimer's presenile dementia. J Med Genet 20:46–51
Buhler EM, Mehes K, Muller H, Stalder GR (1972) Cat-eye syndrome a partial trisomy 22. Humangenetik 15:150–162
Campbell WA, Price WH (1979) Congenital hypothyroidism in Klinefelter's syndrome. J Med Genet 16:439–442
Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackiewicz A, Newton M (1975) Cytogenetics and infertility in man. I. Karyotype and seminal analysis. Ann Hum Genet 39:231–254
Cohen MM, Sandberg AA, Takagi N, MacGillivray MH (1967) Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis. Cytogenetics 6:254–267
Evans HJ, Buckton KE, Sumner AT (1971) Cytological mapping of human chromosomes: results obtained with quinacrine fluorescence and the acetic-saline-Giemsa technique. Chromosoma 35: 310–325
Evans HJ, Buckton KE, Spowart G, Carothers AD (1979) Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum Genet 49:11–31
Fryns JP, Kleczkowska A, Van den Berghe H (1982) Small accessory chromosomes (SAC) and their genotype-phenotype correlation. J Genet Hum 30:215–232
Fujita H, Sakamoto Y, Hamamoto Y (1980) An extra idic(15p)(q11) chromosome in Prader-Willi syndrome. Hum Genet 55:409–411
Gilmore DH, Boyd E, McClure JP, Batstone P, Connor JM (1984) Inv dup(15) with mental retardation but few dysmorphic features. J Med Genet 21:221–223
Guanti G (1981) The aetiology of the cat eye syndrome reconsidered. J Med Genet 18:108–118
Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA (1980) A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 44:151–178
Hungerford DA (1965) Leucocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KC1. Stain Technol 40:333–338
Jacobs PA, Price WH, Richmond S, Ratcliff RAW (1971) Chromosome surveys in penal institutions and approved schools. J Med Genet 8:49–58
Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J (1974) A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet 37: 359–376
Jones RN (1975) B-chromosome systems in flowering plants and animal species. Int Rev Cytol 40:1–100
Knight LA, Lipson M, Mann J, Bachman R (1984) Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter. Am J Med Genet 17:649–654
Maraschio P, Zuffardi O, Bernardi F, Bozzola M, De Paoli C, Fonatsch C, Flatz SD, Ghersini L, Gimelli G, Loi M, Lorini R, Peretti D, Poloni L, Tonetti D, Vanni R, Zamboni G (1981) Preferential maternal derivation in inv dup(15). Analysis of eight new cases. Hum Genet 57:345–350
Neri G, Malvezzi DC, Serra A, Bova R, Pelino A, Maugiatti L (1980) Properties and significance of a small marker chromosome in amniotic fluid cells. Clin Genet 18:253–256
Newton MS, Cunningham C, Jacobs PA, Price WH, Fraser IA (1972) Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosome abnormalities. Clin Genet 3:226–248
Nielsen KB, Dyggve H, Friedrich U, Hobolth N, Lyngbye T, Mikkelsen M (1978) Small metacentric non-satellited extra chromosome. Hum Genet 44:59–69
O'Riordan ML, Langlands AO, Harnden DG (1972) Further studies on the frequency of constitutional chromosome abnormalities in patients with malignant disease. Eur J Cancer 8:373–379
Palutke W, Chen H, Woolley P, Espiritu C, Lauren Vogel H, Gohle N, Tyrkus M (1976) An extra small metacentric chromosome identified as a deleted chromosome No. 17. Clin Genet 9:454–458
Paris Conference 1971 (1972) Standardization in human cytogenetics. Birth Defects VIII: The National Foundation, New York
Price WH, Brunton M, Buckton KE, Jacobs PA (1976) Chromosome survey of new patients admitted to the four maximum security hospitals in the United Kingdom. Clin Genet 9:389–398
Prieto F, Badia L, Ribes C, Medina VH (1981) Trisomie 21 par translocation 21/21 chez deux fils d'une mere avec un microchromosome surnumeraire. Ann Genet 24:117–119
Romain DR, Columbano-Green L, Smythe RH, Dukes PC (1979) Discovery of an inherited bisatellited metacentric microchromosome in amniotic cell culture. Clin Genet 16:183–190
Rosenfeld W, Verma RS, Jhaveri RC (1984) Cat-eye syndrome with unusual marker chromosome probably not chromosome 22. Am J Med Genet 18:19–24
Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA (1981) The “cat eye syndrome”: dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter→q11) associated with a characteristic phenotype. Hum Genet 57:148–158
Schreck RR. Breg WR, Erlanger BF, Miller OJ (1977) Preferential derivation of abnormal human G-group like chromosomes from chromosome 15. Hum Genet 36:1–12
Schweizer D, Ambros P, Andrle M (1978) Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A. Exp Cell Res 111:327–332
Soudek D, Sroka H (1977) C-bands in seven cases of accessory small chromosomes. Clin Genet 12:285–289
Soudek D, McCreary BD, Laraya P, Dill FJ (1973) Two kinships with accessory bisatellited chromosomes. Ann Genet 16:101–107
Steinbach P, Djalali M, Hansmann I, Kattner E, Meisel-Stosiek M, Probeck H-D, Schmidt A, Wolf M (1983) The genetic significance of accessory bisatellited marker chromosomes. Hum Genet 65: 155–164
Stetten G, Sroka-Zaczek B, Corson VL (1981) Prenatal detection of an accessory chromosome identified as an inversion duplication (15). Hum Genet 57:357–359
Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306
Sumner AT, Evans HJ, Buckland RA (1971) New technique for distinguishing between human chromosomes. Nature 232:31–32
Taylor KM, Wolfinger HL, Brown MG, Chadwick DL (1975) origin of a small metacentric chromosome: familial and cytogenetic evidence. Clin Genet 8:364–369
Van Dyke DL, Weiss L, Logan M, Pai GS (1977) The origin and behavior of two isodicentric bisatellited chromosomes. Am J Hum Genet 29:294–300
Wisniewski LP, Hassold T, Heffelfinger J, Higgins JV (1979) Cytogenetic and clinical studies in five cases of inv dup(15). Hum Genet 50:259–270
Wisniewski LP, Witt ME, Ginsberg-Fellner F, Wilner J, Desnick RJ (1980) Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin Genet 18:42–47
Yip M-Y, Mark J, Hulten M (1982) Supernumerary chromosomes in six patients. Clin Genet 21:397–406
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Buckton, K.E., Spowart, G., Newton, M.S. et al. Forty four probands with an additional “marker” chromosome. Hum Genet 69, 353–370 (1985). https://doi.org/10.1007/BF00291656
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DOI: https://doi.org/10.1007/BF00291656