Summary
Clinicopathological and cytogenetic findings in a female infant with 46,XX,i(18q) were reported. She had mixed stigmata of both trisomy 18 and monosomy 18p. Most clinical and pathological findings in this case were compatible with trisomy 18, but several findings such as round flat face, flat nasal bridge, large ears, short webbed neck, low posterior hair line and costovertebral anomalies were compatible with monosomy 18p. Neuropathological study including Golgi study showed minimal dysmorphic abnormalities as seen in trisomy 18.
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References
Bass, H.N., Sparkes, R.S., and Miller, A.A. 1979. Features of trisomy 18 and 18p—syndromes in an infant with 46,XY,i(18q).Clin. Genet. 16: 163–168.
Fioretti, G., Stabile, M., Pagano, L., Rinaldi, A., Rolando, D., Trapassi, C., Tollis, G., and Ventruto, V. 1982. A case of Edward's syndrome with pseudodicentric isochromosome 18∶46, XY, i dic (18) (p11::p11).Ann. Genet. 25: 116–118.
de Grouchy, J. and Turleau, C. 1977.Clinical Atlas of Human Chromosomes. John Wiley & Sons, Inc., New York, pp. 159–180.
Froster-Iskenius, U., Coerdt, W., Rehder, H., and Schwinger, E. 1984. Isochromosome 18q with karyotype 46,XX,i(18q). Cytogenetics and pathology.Clin. Genet. 26: 549–554.
Marin-Padilla, M. 1972. Structural abnormalities of the cerebral cortex in human chromosomal aberrations: a Golgi study.Brain Res. 44: 625–629.
Marin-Padilla, M. 1974. Structural organization of the cerebral cortex (more area) in human chromosomal aberration. A Golgi study. 1. D(13–15) trisomy, Patau syndrome.Brain Res. 66: 375–391.
Michaelson, P.S. and Gilles, F.H. 1972. Central nervous system abnormalities in trisomy E(17–18) syndrome.J. Neurol. Sci. 15: 193–208.
Nakano, S., Okuno, T., Hojo, H., Misawa, S., and Abe, T. 1977. 18p- syndrome associated with hemivertebrae, fused ribs and micropenis.Jpn. J. Human Genet. 22: 27–32.
Rodiere, M., Donadio, D., Emberger, J.M., Astruc, J., and Brunel, D. 1977. Isochromosome 18∶46,XX,i(18q).Ann. Pediatr. 24: 611–616.
Sumi, S.M. 1970. Brain malformations in the trisomy 18 syndrome.Brain 93: 821–830.
Surana, R.B., McKendry, J.B., Bailey, J.D., and Conen, P.E. 1973. Isochromosome long arm 18.Am. J. Hum. Genet. 25: 77, A.
Takashima, S. 1980. Neuronal development of the fetal and infantile period: 1. Visual cortex in the normal and chromosomal aberrations.Brain Nerve (Domestic Ed.)32: 1007–1013.
Takashima, S., Becker, L.E., Amtrong, D.L., and Chan, F. 1981. Abnormal neuronal development in the visual cortex of the human fetus and infant with Down's syndrome. A quantitative and qualitative Golgi study.Brain Res. 225: 1–21.
Wulfsberg, E.A., Sparkes, R.S., and Klisak, I.J. 1984. Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome.J. Med. Genet. 21: 151–153.
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Ieshima, A., Takashima, S., Takada, K. et al. Clinicopathological study in a female infant with 46,XX,i(18q) showing mixed features of both trisomy 18 and monosomy 18p. Jap J Human Genet 30, 219–226 (1985). https://doi.org/10.1007/BF01876472
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DOI: https://doi.org/10.1007/BF01876472
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