Summary
A cytogenetic survey was performed on 172 patients with mental retardation and epileptic seizures. Chromosome abnormalities were detected in 27 patients consisting of 18 out of 36 patients with more than 3 dysmorphic features (MCA group) and 9 out of 136 patients with less than 2 dysmorphisms (non-MCA group). Chromosome abnormalities were frequently found in cases with neonatal seizures, West syndrome, Lennox syndrome and Grand mal seizures, but not in partial seizure or pure absence seizures. It is significant that 9 chromosome abnormalities including 4 rings were unexpectedly detected, and 6 of these cases developed intractable seizures. The incidences of seizures in the patients with various types of chromosome abnormalities were presented along with a review of the literatures. The incidence of seizures in each chromosome abnormality varied from 100% to 0% and was not correlated with the degree of dysmorphism or lethality. Therefore, a specific chromosome site closely related with epileptogenesis may be supposed.
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Atkin, J.F. and Patil, S. 1983. Duplication of the distal segment of 14q.Am. J. Med. Genet. 16: 357–366.
Baughman, F.A. and Mann, J.D. 1972. Ascertainment of seven YY males in a private neurology practice.J.A.M.A. 222: 446–448.
Beneck, D., Sutherland, M.J., Dicker, R., Greco, M.A., and Wolman, S.R. 1984. Deletion of the short arm of chromosome 3: a case report with necropsy findings.J. Med. Genet. 21: 307–310.
Carpenter, N.J., Leichtman, L.G., Stamper, S., and Say, B. 1981. An infant with ring 17 chromosome and unusual dermatoglyphics: a new syndrome?J. Med. Genet. 18: 234–236.
Cassidy, S.B., Heller, R.M., Chazen, E.M., and Engel, E. 1977. The chromosome 2 distal short arm trisomy syndrome.J. Pediatr. 91: 934–938.
Cohen, M.M., Lerner, C., and Balkin, N.E. 1983. Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment.Am. J. Med. Genet. 14: 89–96.
Delgado-Escueta A.V., White, R., Greenberg, D.A., and Treiman, L.J. 1986. Looking for epilepsy genes: clinical and molecular genetic studies. InAdvances in Neurology, Delgado-Escueta A.V. et al., eds., Raven Press, New York, Vol. 44, pp. 77–95.
de Grouchy, J. and Turleau, C. 1984.Clinical Atlas of Human Chromosomes, A Wiley Medical Publication, New York.
Funderburk, S.J., Sparkes, R.S., and Sparkes, M.C. 1983. Trisomy 20p due to a paternal reciprocal translocation.Ann. Génét. 26: 94–97.
GarcÃa-Cruz, D., Rivera, H., Barajas, L.O., Jiménez-Sáinz, M., Nazará, Z., Sánchez-Corona, J., Durón-Huerta, H., GarcÃa-Ochoa, C., and Cantú, J.M. 1985. Monosomy 20p due to ade novo del(20)(p12.2). Clinical and radiological delineation of the syndrome.Ann. Génét. 28: 231–234.
Hansteen, I.L., Schirmer, L., and Hestetun, S. 1978. Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring.Clin. Genet. 13: 339–349.
Herva, R., Saarinen, I., and Leikkonen, L. 1977. The r(20) syndrome.J. Med. Genet. 14: 281–283.
Hodes, M.E., Cole, J., Palmer, C.G., and Reed, T. 1978. Trisomy 18 (29 cases) and trisomy 13 (19 cases): a summary.Birth Defects Ori. Art. Ser. 14(6c): 377–382.
Hunter, A.G.W., Ray, M., Wang, H.S., and Thompson, D.R. 1977. Phenotypic correlations in patients with ring chromosome 22.Clin. Genet. 12: 239–249.
Ieshima, A., Takeshita, K., and Yamamoto, K. 1983. Ring 14 syndrome with decreased bone mineral content in two pubertal girls.Jpn. J. Human Genet. 28: 35–43.
Ieshima, A., Yorita, T., and Takeshita, K. 1984. A simple R-banding technique by BrdU-Hoechst treatment and Giemsa staining following heating and ultraviolet exposure.Jpn. J. Human Genet. 29: 133–138.
Ieshima, A., Takashima, S., Takada, K., Akamatsu, Y., Ohtani, K., and Ando, G. 1985. Clinicopathological study in a female infant with 46,XX,i(18q) showing mixed features of both trisomy 18 and monosomy 18p.Jpn. J. Human Genet. 30: 219–226.
Ieshima, A., Takeshita, K., Shirasaka, Y., Nakao, Y., and Kisa, T. 1985. Distal 15q trisomy with Dandy-Walker malformation in a female infant.Jpn. J. Human Genet. 30: 227–232.
Jalbert, P., Jalbert, H., Sele, B., Tuchker, D., Bost, M., Meynard, R., and Pison, H. 1977. Chromosome 20 en anneau: un nouveau syndrome.Ann. Génét. 20: 258–262.
Johnson, V.P., Mulder, R.D., and Hosen, R. 1976. The Wolf-Hirschorn (4p−) syndrome.Clin. Genet. 10: 104–112.
Koenig, R., Kessel, E., and Schoenberger, W. 1985. Partial monosomy 10p syndrome.Ann. Génét. 28: 173–176.
Kunze, J. 1980. Neurological disorders in patients with chromosomal anomalies.Neuropediatrics 11: 203–249.
Leschot, N.J., De Nef, J.J., Geraedts, J.P.M., Becker-Bloemkolk, M.J., Talma, A., Bijilsma, J.B., and Verjaal, M. 1979. Five familial cases with a trisomy 16p syndrome due to translocation.Clin. Genet. 16: 205–214.
Liberfarb, R.M., Atkins, L., and Holmes, L.B. 1978. Chromosome 6q− and associated malformations.Ann. Génét. 21: 223–225.
McMorrow, L.E., Bornstein, S., Fischer, R.H., Gluckson, M.M. 1984. Partial trisomy 16p due to maternal balanced translocation.J. Med. Genet. 21: 315–316.
Merrild, U., Berggreen, S., Hansen, L., Mikkelsen, M., and Henningsen, K. 1981. Partial deletion of the short arm of chromosome 3.Eur. J. Pediatr. 136: 211–216.
Miller, J.Q., Willson, K., Wyandt, H., Jaramillo, A.J., and McConnell, T.S. 1979. Familial partial 14 trisomy.J. Med. Genet. 16: 60–65.
Niebuhr, E. 1978. The cri du chat syndrome. Epidemiology, cytogenetics, and clinical features.Hum. Genet. 44: 227–275.
Nielsen, J. and Pedersen, E. 1969. Electro-encephalographic findings in patients with Klinefelter's syndrome and the XYY syndrome.Acta Neur. Scand. 45: 87–94.
Ono, K., Suzuki, Y., Fujii, I., Takeshita, K., Arima, M., and Nakagome, Y. 1974. A case of ring chromosome E 17:46,XX,r(17)(p13→q25).Jpn. J. Human Genet. 19: 235–242.
Reynolds, J.F., Shires, M.A., Wyandt, H.E., and Kelly, T.E. 1983. Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression.Clin. Genet. 24: 365–374.
Riccardi, V.M. 1977. Trisomy 8: an international study of 70 patients.Birth Defects Ori. Art. Ser. 13(3c): 171–184.
Roberts, S.H. and Duckett, D.P. 1978. Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.J. Med. Genet. 15: 375–381.
Salazar, D., Rosenfeld, W., Verma, R.S., Jhaveri, R.C., and Dosik, H. 1979. Partial trisomy of chromosome 3 (3q12→qter) owing to 3q/18p translocation. A trisomy 3q syndrome.Am. J. Dis. Child. 133: 1005–1008.
Schutten, H.J., Schutten, B.T., and Mikkelsen, M. 1978. Partial trisomy of chromosome 13. Case report and review of literature.Ann. Génét. 21: 95–99.
Smith, D.W. 1976.Recognizable Patterns of Human Malformation, 2 ed., Saunders Co., Philadelphia.
Smith, G.F. and Berg, J.M. 1976.Down's Anomaly, Churchill Livingstone, Edinburgh.
Speevak, M., Hunter, A.G.W., Hughes, H., and Cox, D.M. 1985. A familial paracentric inv(1) (q42q44) resulting in a child with a del(1) (q42) karyotype.Ann. Génét. 28: 177–180.
Stengel-Rutkowski, S., Warkotsch, A., Schimanek, P., and Stene, J. 1984. Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.Clin. Genet. 25: 500–521.
Stewart, J.M., Cavanagh, N., and Hughes, D.T. 1979. Ring 20 chromosome in a child with seizures, minor anomalies, and retardation.Arch. Dis. Child. 54: 477–479.
Stratton, R.F., Dobyns, W.B., Airhart, D.S., and Ledbetter, D.H. 1984. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.Hum. Genet. 67: 193–200.
Tatsuno, M., Hayashi, M., Iwamoto, H., Suzuki, Y., and Kuroki, Y. 1984. Epilepsy in childhood Down syndrome.Brain Develop. 6: 37–44.
Taylor, M.B. 1970. Chromosomal variability in the D1 trisomy syndrome.Am. J. Dis. Child. 120: 374.
Young, R.S.K. and Zalneraitis, E.L. 1980. Neurological and neuropathological findings in ring chromosome 4.J. Med. Genet. 17: 487–490.
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Ieshima, A., Takeshita, K. Chromosome abnormalities and epileptic seizures. Jap J Human Genet 33, 49–60 (1988). https://doi.org/10.1007/BF01891240
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DOI: https://doi.org/10.1007/BF01891240
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