Full text in pdf format

46,XX,r(13)/46,XX, iso psu dic(13)? mosaicism

Maria Herbenia Oliveira Duarte^I; Lucia Regina Martelli^I; Ester Silveira Ramose^I; Roseli de Aquino Pinto Ferreira^I; Iris Ferrari^II

^IDepartamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049 Ribeirão Preto, SP, Brasil. Send correspondence to M.H.O.D.
^IIDepartamento de Genética e Morfologia, Instituto de Ciências Biológicas, Universidade de Brasília, 70000 Brasília, DF, Brasil

ABSTRACT

The authors report a rare case of chromosome mosaicism 46,XX,r(13)/46,XX, iso psu dic(13)? in a patient with clinical signs similar to those observed in the ring 13 syndrome (2nd category of Niebuhr (Yunis, J.J., ed.). Academic Press, New York, pp. 273-299. A hypothesis that could account for a common origin of the two cell lines is presented and the clinical and cytogenetic findings are compared to those reported in the literature.

Keywords: mosaicism.

REFERENCES

Davis, J.R. and Cole, H.H. (1984). Apud Holland-Saumur, J., Borgaonkar, D.S., Esterly, K.L., Wilmoth, D. and Munshi, G. (1987). A report of a case of r(13) syndrome and a review of the literature. Cytologia 52: 243-254.

Fried, K., Rosenblatt, M., Mundel, G. and Krikler, R. (1975). Ring chromosome 13 syndrome. Clin. Genet. 7: 203-208.

Fryns, J.P., Denoover, J., Berghe, H. van den, Cassiman, J.J., Goffaux, P. and Lelas, E. (1974). Malformative syndrome with ring chromosome 13. Humangenetik 24: 235-240.

Holland-Saumur, J., Borgaonkar, D.S., Esterly, K.L., Wilmoth, D. and Munshi, G. (1987). A report of a case of r(13) syndrome and a review of the literature. Cytologia 52: 243-254.

Hoo, J.J., Hillin, U., Cramer, H., Hansen, S. and Hermann, F. (1974a). Familial short arm deletion of chromosome 13. Humangenetik 21: 283-286.

Hoo, J.J., Obermann, V. and Cramer, H. (1974b). The behavior of ring chromosome 13. Humangenetik 24: 161-171.

Hutchinson-Cole, H., Aleck, K.A., Davis, J.R., Veomett, J.C. and Hauck, L. (1986). Mosaicism for ring and isopseudodicentric chromosome 13. Clin. Genet. 29: 88-91.

Lagergren, M., Borjeson, M. and Mitelman, F. (1980). Prophase analysis of ring chromosome 13 - an attempt at phenotype-karyotype correlation. Hereditas 93: 231-233.

Madan, K., Vlasveld, L. and Barth, P.G. (1981). Ring 18 and isopseudodicentric-18 in the same child: A hypothesis to account for common origin. Ann. Génét. 24: 12-16.

Magenis, R.E., Wyandt, H.E., Overton, KM. and MacFarlane, J. (1976). Parental origin of a ring 13 chromosome in a female with multiple anomalies. Hum. Genet. 33: 181-186.

Niebuhr, E. (1973). Reexamination of a family with a t (13q 14q) and a ring D (13). Child. Ann. Genet. 16: 199-202.

Niebuhr, R. (1977). Partial trisomies and deletions of chromosome 13. In: new Chromosome Syndromes (Yunis, J.J., ed.). Academic Press, new York, pp. 273-299.

Niebuhr, E. and Ottosen, J. (1973). Ring chromosome D (13) associated with multiple congenital malformations. Ann. Génét. 16: 157-166.

Noel, B., Quack, B. and Rethore, M.O. (1976). Partial deletions and trisomies of chromosome 13: mapping of bands associated with particular malformations. Clin. Genet. 9: 593-602.

Oka, S., Nakagome, Y., Teramura, F., Hosono, F. and Katuma, M. (1977). Trisomy/partial monosomy mosaicism of no. 13 pair [46,XX,-13, + rob(13q13q)/46,XX r(13) (p11q34)]. Jpn. J. Hum. Genet. 22: 73-78.

Parcheta, B., Wisniewski, L., Piontek, E., Saymanska, J., Skawinski, W. and Wermenski, K. (1985). Clinical features in a case with ring chromosome 13. Ear. J. Pediam 144: 409-412.

Smith, D.W. (1985). Síndromes de malformaçoes congênitas. Aspectos genéticos, embrionários e clínicos. Editora Manole, São Paulo, pp. 20-23.

Zdansky, R., Andrle, M., Buhler, E., Tsuchimoto, T., Mayr, W.K. and Rett, A. (1975). Irregular phenotypic expression of ring chromosomes. Humangenetik 26: 193-198.

Zink, U., Rix, R., Grosse, K.P. and Schwanttz, G. (1973). Ring Chromosom D13. Kasuistick und Ubersicht. Klin. Pádiatr. 185: 192-197.