Summary
An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, broad thumbs, clenched fingers 3–5 on the right hand, simian creases, a congenital heart defect, internal hydrocephalus, and bilateral hydronephrosis. He died on day 26 of his life. Chromosome examination disclosed a maternally inherited reciprocal translocation between 5p and 7q, resulting most probably in monosomy of 5q15 and trisomy of 7q32→qter (46,XY, der (5), t(5;7)(p15;q32)mat).
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Alfi, O. S., Donnell, G. N., Kramer, S. L.: Partial trisomy of the long arm of chromosome No. 7. J. Med. Genet. 10, 187–189 (1973)
Al Saadi, A., Moghadam, A.: Partial trisomy of the long arm of chromosome 7. Clin. Genet. 9, 250–254 (1976)
Back, E., Vogel, W., Hertel, C., Schuchmann, L.: Trisomy 10p due to t(5;10)(q15;q11). Segregation in a large sibship. Hum. Genet. 41, 11–17 (1978)
Bass, H. N., Crandall, B. F., Marcy, S. M.: Two different chromosome abnormalities resulting from a translocation-carrier father. J. Pediatr. 83, 1034–1038 (1973)
Berger, R., Turc, C., Wachter, H., Begue, G.: Partial 7q trisomy. Clin. Genet. 11, 39–42 (1977)
Bijlsma, J. B., de France, H., Bleeker-Wagemakers, E. M., Wijffels, J. C. H. M.: Duplication deficiency syndrome in familial translocation (2q-;5p+). Humangenetik 12, 110–122 (1971)
Leisti, J., Kaback, M. M., Rimoin, D. L.: Cri du chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation. Birth Defects II, 317–319 (1975)
Mann, J., Rafferty, J. H.: Cri du chat syndrome combined with partial C-group trisomy. J. Med. Genet. 9, 289–292 (1972)
McDermott, A., Poulding, R., Creery, D.: Cri du chat syndrome in a child with a 46,XX, der(5),t(4;5)(q32;p14)pat karyotype. Hum. Genet. 39, 109–112 (1977)
Morić-Petrović, Laća, Z., Krajger, A.: Translocation réciproque dans la fámille de deux proposants avec une trisomie partielle du chromosome 7q. Ann. Genet. 19, 133–136 (1976)
Newton, M. S., Cunningham, C., Jacobs, P. A., Price, W. H., Fraser, I. A.: Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosomal abnormalities. Clin. Genet. 3, 226–248 (1972)
Niebuhr, E.: The cri du chat syndrome. Hum. Genet. 44, 227–275 (1978)
Schmid, M., Wolf, J., Nestler, H., Krone, W.: Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation. Hum. Genet. 49, 283–289 (1979)
Schwingshackl, A., Ganner, E.: Partielle B-Trisomie bei Cri du Chat Syndrom. Pädiatr. Pädol. 8, 362–371 (1973)
Turleau, C., Rossier, A., de Montis, G., Roubin, M., Chavin-Colin, F., de Grouchy, J.: Trisomie partielle 7q. Un ou deux syndromes? A propos d'une nouvelle observation. Ann. Genet. 19, 37–42 (1976)
Vogel, W., Siebers, J. W., Reinwein, H.: Partial trisomy 7q. Ann. Genet. 16, 277–280 (1973)
Winsor, E. J. T., Palmer, C. G., Ellis, P. M., Hunter, J. L. P., Ferguson-Smith, M. A.: Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet. Cell Genet. 20, 169–184 (1978)
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Schinzel, A., Tönz, O. Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q. Hum Genet 53, 121–124 (1979). https://doi.org/10.1007/BF00289464
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DOI: https://doi.org/10.1007/BF00289464