Summary
Five mentally retarded male patients with a supernumerary small metacentric nonsatellited chromosome were found to have many clinical features in common. The face showed characteristic small crowded features, the bodily habitus was asthenic, and the hands and feet had minor abnormalities. Renal anomalies were present in two patients. One patient had a myelomeningocele.
Cytogenetic studies employing Q, R, and C banding in four patients showed the small extra chromosome to have staining properties compatible with an isochromosome of the short arm of chromosome 18.
A comparison with previous case reports suggests a new syndrome. However, the identity of the extra chromosome has not yet been determined.
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Abbo, G., Zellweger, H.: The syndrome of the metacentric microchromosome. Helv. Paediatr. Acta 25, 83–94 (1970)
Armendares, S., Buentello, L., Salamanca, F.: An extra small metacentric autosome in a mentally retarded boy with multiple malformations. J. Med. Genet. 8, 378–380 (1971)
Arrighi, F. E., Hsu, T. C.: Localization of heterochromatin in human chromosomes. Cytogenetics 10, 81–86 (1971)
Ayraud, N., Noel, B., Llyod, M., Letourneau, J., Martinon, J.: Petit chromosome métacentrique surnuméraire: Essai d'interprétation. J. Genet. Hum. 24, 81–93 (1976)
Balicek, P., Zizka, J., Lichy, J.: An isochromosome of the shorts arms of the No. 18 chromosome in a mentally retarded girl. Clin. Genet. 9, 192–196 (1976)
Borgaonkar, D. S., Schimke, R. N., Thomas, G. H.: Report of five unrelated patients with a small, metacentric, extra chromosome or fragment. J. Genet. Hum. 19, 207–222 (1971)
Caspersson, T., Zech, L., Johnsson, C., Modest, E. J.: Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30, 215–227 (1970)
Chandley, A. C., Edmond, P., Christie, S., Gowans, L., Fletcher, J., Frackiewicz, A., Newton, M.: Cytogenetics and infertility in man. I. Karyotype and seminal analysis. Ann. Hum. Genet. 39, 231–255 (1975)
Condron, C. J., Cantwell, R. J., Kaufman, R. L., Brown, S. B., Warren, R. J.: The supernumerary isochromosome 18 syndrome (+18pi). Birth Defects: Orig. Art. Ser. X, 36–42 (1974)
Crandall, B. F., Carrel, R. E., Sparkes, R. S.: Chromosome findings in 700 children referred to a psychiatric clinic. J. Pediatr. 80, 62–68 (1972)
Dumars, K. W., Fialko, G., Larson, E.: E trisomy phenotype associated with small metacentric chromosome and a familial Y-22 translocation. Birth Defects: Orig. Art. Ser. XII, 97–104 (1976)
Ferrante, E., Bruni, L., Laurenti, F.: Parziale trisomia autosomica in soggetto affetto da ritardo mentale e lievi note dismorfiche. Minerva Pediatr. 20, 522–529 (1968)
Finley, W. H., Finley, S. C., Monsky, D.: An extra small metacentric chromosome in association with multiple congenital abnormalities. J. Med. Genet. 8, 381–383 (1971)
Flynn, H., Chakanovskis, J. E., Pitt, D., Sutherland, G. R., Ferguson, J.: Three children with 47 chromosomes. Aust. J. Ment. Ret. 1, 82–88 (1970)
Frezza, M., Perona, G., Vettore, L., DeSandre, G.: Cerebropatia familiare con presenza di un piccolo extracromosoma metacentrico. Folia Hered. Pathol. 15, 107–114 (1966)
Friedrich, U., Nielsen, J.: Bisatellited extra small metacentric chromosome in newborns. Clin. Genet. 6, 23–31 (1974)
Frøland, A., Holst, G., Terslev, E.: Multiple anomalies associated with an extra small autosome. Cytogenetics 2, 99–106 (1963)
Fujita, K., Fujita, H. M.: An extra small submetacentric chromosome: Possible partial 18 trisomy. Jpn. J. Hum. Genet. 19, 371–373 (1975)
Gamstorp, I., Håkansson, L., Lagergren, J.: A case of mental retardation with an additional small metacentric chromosome. Hereditas 55, 266–272 (1966)
Gustavson, K.-H., Atkins, L., Patricks, I.: Diverse chromosomal anomalies in two siblings. Acta Paediatr. 53, 371–387 (1964)
Haberlandt, W.: Ein Beitrag zur Frage des ‘Kopenhagen Chromosoms’ (Syndrom des kleinen metazentrischen Extrachromosoms). Aerztl. Forsch. 25, 218–223 (1971)
Hamerton, J. L., Canning, N., Ray, M., Smith, S.: A cytogenetic survey of 14,069 newborn infants. Clin. Genet. 8, 223–243 (1975)
Hoehn, H., Reinwein, H., Engel, W.: Genetic studies on a minute centric fragment transmitted through three generations. Cytogenetics 9, 186–198 (1970)
Ishmael, J., Laurence, K. M.: An extra small metacentric chromosome in a mentally retarded boy. J. Med. Genet. 5, 335–340 (1968)
Jalbert, P., Lagier, A., Gachon, J., Bost, M.: Malformations multiples chez un enfant présentant un chromosome surnuméraire médian et de petite taille. Pediatrie XXII, 963–966 (1967)
Kunze, J., Tolksdorf, M., Wiedemann, H.-R.: Cat Eye-Syndrom. Humangenetik 26, 271–289 (1975)
Mikkelsen, M.: Identification of active and inactive X-chromosomes by BUDR incorporation and fluorochrome staining. Chromosomes Today V, 409–414 (1976)
Mukherjee, D., Burdette, W. J.: A familial minute isochromosome. Am. J. Hum. Genet. 18, 62–69 (1966)
Mukherjee, A. B., Partington, M. W., Simpson, N. E., Walmsley, K. A.: Multiple anomalies associated with a small extra metacentric autosome. J. Med. Genet. 5, 329–334 (1968)
Newton, M. S., Cunningham, C., Jacobs, P. A., Price, W. H., Fraser, I. A.: Chromosome survey of a hospital for the mentally subnormal. Part 2. Autosome abnormalities. Clin. Genet. 3, 226–248 (1972)
Nielsen, J., Hreidarsson, A. B., Berggreen, S., Ried, E., Tsuboi, T., Saldana-Garcia, P.: A mentally retarded male with karyotype 47,XY,+mar=? i(18p). Ann. Genet. (Paris) 17, 129–133 (1974)
Nielsen, J., Sillesen, I.: Incidence of chromosome aberrations among 11,148 newborn children. Humangenetik 30, 1–12 (1975)
Ogata, K., Iinuma, K., Kamimura, K., Morinaga, R., Kato, J.: A case report of a presumptive +i(18p) associated with serum IgA deficiency. Clin. Genet. 11, 184–188 (1977)
Palutke, W., Chen, H., Woolley, P., Espiritu, C., Vogel, H. L., Gohle, N., Tyrkus, M.: An extra small metacentric chromosome identified as a deleted chromosome No. 17. Clin. Genet. 9, 454–458 (1976)
Pfeiffer, R. A., Diekmann, L., Büchner, Th.: Familial occurrence of a small metacentric extra chromosome with satellites on both ends. Ann. Genet. (Paris) 10, 124–130 (1967)
Schreck, R. R., Breg, W. R., Erlangen, B. F., Miller, O. J.: Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15. Hum. Genet. 36, 1–12 (1977)
Smith, K. D., Steinberger, E., Steinberger, A., Perloff, W. H.: A familial centric chromosome fragment. Cytogenetics 4, 219–226 (1965)
Soudek, D., McCreary, B. D., Laraya, P., Dill, F. J.: Two kinships with accessory bisatellited chromosomes. Ann. Genet. (Paris) 16, 101–107 (1973)
Speed, R. M., Johnston, A. W., Evans, H. J.: Chromosome survey of a total population of mentally subnormal in North-East of Scotland. J. Med. Genet. 13, 295–306 (1976)
Sutherland, G. R., Murch, A. R., Gardiner, A. J., Carter, R. F., Wiseman, C.: Cytogenetic survey of a hospital for the mentally retarded. Hum. Genet. 34, 231–245 (1976)
Tangheroni, W., Cao, A., Furbetta, M.: Multiple anomalies associated with an extra small metacentric chromosome: Modified Giemsa stain results. Humangenetik 18, 291–295 (1973)
Taylor, K. M., Wolfinger, H. L., Brown, M. G., Chadwick, D. L.: Origin of a small metacentric chromosome: Familial and cytogenetic evidence. Clin. Genet. 8, 364–369 (1975)
Toomey, K. E., Mohandas, T., Leisti, J., Szalay, G., Kaback, M. M.: Further delineation of the supernumerary chromosome in the Cat-Eye-Syndrome. Clin. Genet. 12, 275–284 (1977)
Walbaum, R.: Petit chromosome métacentrique surnuméraire chez la soeur d'un enfant atteint de trisomie 21. Ann. Pediatr. 18, 455–463 (1971)
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Nielsen, K.B., Dyggve, H., Friedrich, U. et al. Small metacentric nonsatellited extra chromosome. Hum Genet 44, 59–69 (1978). https://doi.org/10.1007/BF00283575
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DOI: https://doi.org/10.1007/BF00283575