Summary
The case of a 5-month-old male infant with 18p- mosaic, who has intractable seizures and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the 18p- syndrome, is reported. The proportions of abnormal cells are 7–8% in blood and 55% in skin. About 35% of the short arm of chromosome 18 is deleted. To our knowledge the present report is the fifth one of 18p- mosaic. The main interest of this case resides in the fact that it shows a serious clinical picture despite the low proportion of abnormal cells in blood and the small degree of deletion of the short arm of chromosome 18.
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Buffoni, L., Terateta, A., Aicardi, G., Vianello, M. G., Bonioli, E.: Nanismo ipofisario e sindrome malfomativa multipla tipo Goldenhar in soggetto con delezione del braccio corto del cromosoma 18. Minerva Pediatr. 28, 716–729 (1976)
Faust, J., Habedank, M., Nieuwenhuijsen, C.: The 18p- syndrome, report of four cases. Eur. J. Pediatr. 123, 59–66 (1976)
Funderburk, S. J., Sparkes, R. S., Klisak, I.: 18p- syndrome resulting from 14q/18q ‘dicentric’ fusion translocation. Hum. Genet. 39, 243–250 (1977)
Grouchy, J. de, Lamy, M., Thieffry, S., Arthuis, M., Salmon, C.: Dysmorphie complexe avec oligophrénie: Délétion des bras courts d'un chromosome 17–18. C.R. Acad. Sci. [D] (Paris) 256, 1028–1029 (1963)
Grouchy, J. de, Bonnette, J., Salmon, C.: Délétion du bras court du chromosome 18. Ann. Genet. (Paris) 9, 19–26 (1966)
Harlan, W. L., Cotton, J. E., Pettid, F., Fitzmaurice, F., Kaplan, A. R., Lynch, H. T.: Clinical manifestations in a child affected with mosaicism involving partial deletion of the short arm of an E-18 chromosome (Abstr.). 4th Congress on Human Genetics. Excerpta Med. (Amst.) Sect. 233, 86 (1971)
Laurent, C., Michel, M., Philippe, N., Pincon, J. A.: Délétion du bras court du chromosome 18 et mosaique paternelle. Ann. Genet. (Paris) 13, 56–60 (1970)
Lurie, I. W., Lazjuk, G. I.: Partial monosomies 18, review of cytogenetical and phenotypical variants. Humangenetik 15, 203–222 (1972)
Schinzel, A., Schmid, W., Lüscher, U., Nater, M., Brook, C., Steinmann, B.: Structural aberrations of chromosome 18. I. The 18p- syndrome. Arch. Genet. (Zur.) 47, 1–15 (1974)
Simon, N., Hunyadi, J., Szörenyi, A., Szemere, G.: Deletion des kurzen Armes des Chromosoms Nr. 18 und 18er Trisomie bei einem Geschwisterpaar mit Porphyrie ungewöhnlicher Erscheinungsform. Hautarzt 24, 185–189 (1973)
Uchida, I. A., McRae, K. N., Wang, H. C., Ray, M.: Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita. Am. J. Hum. Genet. 17, 410–419 (1965)
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Motegi, T., Ichikawa, A., Noda, M. et al. 18p- Mosaicism. Hum Genet 44, 213–217 (1978). https://doi.org/10.1007/BF00295417
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DOI: https://doi.org/10.1007/BF00295417