Summary
A mosaicism of cells with a ring and a deleted chromsome No. 18 was observed in a 30-month-old female infant with congenital malformations. With the G- and C-banding techniques, the karyotype of the patient was shown to be a 46,XX,del(18)(p11.1)/46,XX,r(18)(p11.1q23). The clinical features of the patient included short stature, mental retardation, microcephaly, hypertelorism, epicanthus, prominent ear lobes, saddle nose and tapering fingers, which were similar to those frequently seen in the 18p-syndrome.
Similar content being viewed by others
Article PDF
References
Arrighi, F.E. and Hsu, T.C. 1971. Localization of heterochromatin in human chromosomes.Cytogenetics 10: 81–86.
Dyke, H.E. van, Valdmanis, A., and Mann, J.D. 1964. Probable deletion of the short arm of chromosome 18.Am. J. Hum. Genet. 16: 364–374
Gripenberg, U. 1967. The cytological behaviour of a human ring-chromosome.Chromosoma 20: 284–289.
Gropp, A., Jussen, A., and Ofteringer, K. 1964. Multiple congenital anomalies associated with a partially ring-shaped chromosome probably derived from chromosome No. 18 in man.Nature (London) 202: 829–830.
Grouchy, J. de 1969. The 18p-, 18q- and 18r syndromes. Birth Defects:Original Article Series 5: 74–87.
Grouchy, J. de, Lamy, M., Thieffry, S., Arthuis, M., and Salmon, Ch. 1963. Dysmorphie complexe avec oligophrénie: Délétion des bras court d'un chromosome 17–18.C. R. Acad. Sci. (Paris) 256: 1028–1029.
Grouchy, J. de, Royer, P., Salmon, Ch., and Lamy, M. 1964. Délétion partielle des bras long du chromosome 18.Path. et Biol. 12: 579–582.
Law, E.M., and Masterson, J.G. 1966. Partial deletion of chromosome 18.Lancet ii: 1137.
Lejeune, J., Berger, R., Rethoré, M.-O., Paolini, P., Boisse, J., and Mozziconacci, P. 1966. Sur un cas de délétion partielle du bras court du chromosome 18, résultant d'une translocation familiale 18c-17.Ann. Génét. 9: 27–31.
Lucas, M., Kemp, N.H., Ellis, J.R., and Marshall, R. 1963. A small autosomal ring chromosome in a female infant with congenital malformations.Ann. Hum. Genet. 27: 189–195.
Lurie, I.W., and Lazjuk, G.I. 1972. Partial monosomies 18. Review of cytogenetical and phenotypical variants.Humangenetik 15: 203–222.
Mikkelsen, M. and Vestermark, S. 1974. Karyotype 45,XX,-21/46,XX,21q- in an infant with symptoms of G-deletion syndrome I.J. Med. Genet. 11: 389–393.
Ray, M., Canning, N., and Hamerton, J.L. 1975. The human complement after trypsin pretreatment as compared to the Paris standard.Humangenetik 29: 29–34.
Ruthner, U. and Golob, E. 1974. 45,X/45,X,ace(?Yp)+/46,X,r(Y) in a phenotypically normal newborn male.Humangenetik 22: 177–180.
Schinzel, A., Hayashi, K., and Schmid, W. 1975. Structural aberrations of chromosome 18. II. The 18q-syndrome. Report of three cases.Humangenetik 26: 123–132.
Shibata, K., Waldenmaier, C., and Hirsch, W. 1973. A child with a 21-ring chromosome, 45, XX,21-/46,XX,21r investigated with the banding technique.Humangenetik 18: 315–319.
Summitt, R.L. 1964. Deletion of the short arm of chromosome 18.Cytogenetics 3: 201–206.
Sumner, A.T., Evans, H.J., and Buckland, R.A. 1971. A new technique for distinguishing between human chromosomes.Nature (London) New Biol. 232: 31.
Wang, H.C., Melnyk, J., McDonald, L.T., Uchida, I.A., Carr, D.H., and Goldberg, B. 1962. Ring chromosome in human beings.Nature (London) 195: 733–734.
Wertelecki, W., and Gerald, P.S. 1971. Clinical and chromosomal studies of the 18q- syndrome.J. Pediatr. 78: 44–52.
Yunis, J.J. and Sanchez, O. 1975. The G-banded prophase chromosomes of man.Humangenetik 27: 167–172.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sonta, Si., Mizuno, K., Oishi, H. et al. A case of 46,XX,18p–/46,XX,r(18) mosaicism. Jap J Human Genet 23, 239–244 (1978). https://doi.org/10.1007/BF01872474
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01872474