Abstract
This is the report of a family in which a balanced translocation in the mother t(5;10)(p15;p13) led to an unbalanced chromosomal constitution in two children. It was identified by G-banding analysis as trisomy of the distal portion of the short arm of chromosome 10 (p13→pter). Comparison with 15 previous reports of trisomy 10p confirms the existence of a characteristic dysmorphic syndrome.
Zusammenfassung
Es wird von einer Familie berichtet, in der durch mütterliche balancierte Translokation t(5;10)(p15;p13) eine unbalancierte Chromosomenkonstitution bei zwei Kindern entstand. Mit Hilfe der G-Bandenanalyse wurde sie als Trisomie des distalen Abschnitts des kurzen Armes von Chromosom 10 (p13→pter) identifiziert. Der Vergleich mit 15 Literaturberichten von Trisomie 10p bestätigt das Vorliegen eines charakteristischen Dysmorphiesyndroms.
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References
Arakaki, D. T., Sparkes, R. S.: Microtechnique for culturing leucocytes from whole blood. Cytogenetics 2, 57–60 (1963)
Berger, R., Touati, G., Derre, J.: Cri du chat-syndrome with maternal insertional translocation. Clin. Genet. 5, 428–432 (1974)
Cantu, J.-M., Salamanca, F., Buentello, L., Carnevale, A., Armendares, A.: Trisomy 10p. A report of two cases due to a familial translocation rcp(10;21)(p11;p11). Ann Génét. 18, 5–11 (1975)
Francke, U., Kermahan, C., Bradshaw, C.: Del(10)p autosomal deletion syndrome: Clinical, cytogenetic and gene marker studies. Humangenetik 26, 343–351 (1975)
Grosse, K. P., Schwanitz, G., Singer, H., Wieczorek, V.: Partial trisomy 10p. Humangenetik 29, 141–144 (1975)
Hirschhorn, K., Lucas, M., Wallace, I.: Precise identification of various chromosomal abnormalities. Ann. Hum. Genet. 36, 375–379 (1973)
Hustinx, T. W. J., ter Haar, B. G. A., Scheres, J. M. C., Rutten, F. J.: Trisomy of the short arm of chromosome no. 10. Clin. Genet. 6, 408–415 (1974)
Insley, J., Rushton, D. I., Everley Jones, H. W.: An intersexual infant with an extra chromosome. Ann. Génét. 11, 89–94 (1968)
Magenis, R. E., Overton, K., Wyandt, H., Bergstrom, T., Hecht, F., Lovrien, E.: Exclusion of gene mapping utilizing patients with chromosome imbalance. Humangenetik 27, 91–109 (1975)
Morić-Petrović, S., Laća, Z., Krajgher, A., Milośević, J.: Deux cas de trisomie 10p partielle dus une translocation paternelle t(10;18)(p13;q23). Ann. Génét. 19, 195–197 (1976)
Nakagome, Y., Kobayashi, H.: Trisomy of the short arm of chromosome 10. J. Med. Genet. 12, 412–413 (1975)
Paris-Conference (1971): Standardisation in human cytogenetics. Cytogenetics 11, 315–362 (1972)
Rodewald, A.: Das Hautleistensyndrom beim Down-Syndrom. Ein Beitrag zur Differential-diagnose. Dissertation, München 1974
Rodewald, A., Stengel-Rutkowski, S.: The dermatoglyphic pattern of the trisomy 10p syndrome (in preparation)
Schleiermacher, E., Schliebitz, U., Steffens, C.: Brother and sister with trisomy 10p: A syndrome. Humangenetik 23, 163–172 (1974)
Shokeier, M. H. K., Ray, M., Hamerton, J. L., Bauder, F., O'-Brien, H.: Deletion of the short arm of chromosome no. 10. J. Med. Genet. 12, 99–113 (1975)
Stene, J., Stengel-Rutkowski, S.: A segregation analysis of 11 families with different translocation (in preparation)
Turleau, C., Dousseau de Bazignan, M., Roubin, M., de Grouchy, J.: Trisomie 10p. Une observation ancienne précisée par marquage. Ann. Génét. 19, 61–64 (1976)
Walther, J. U., Stengel-Rutkowski, S., Murken, J. D.: Observations with G-banding of human chromosomes. Reduction of dye concentration in Soerensen buffered solutions is sufficient for demonstrating G-bands. Humangenetik 25, 49–51 (1974)
Yanagisawa, S., Adachi, K.: A case of multiple congenital anomalies with familial C/G translocation. Jap. J. Human Genet. 14, 309–315 (1970)
Yunis, E., Silva, R., Giraldo, A.: Trisomy 10p. Ann. Génét. 19, 57–60 (1976)
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Supported by deutsche Forschungsgemeinschaft (Mu 258/12) and Fördergemeinschaft für Genetische Beratung
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Stengel-Rutkowski, S., Murken, J.D., Frankenberger, R. et al. New chromosomal dysmorphic syndromes. Eur J Pediatr 126, 109–125 (1977). https://doi.org/10.1007/BF00442193
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DOI: https://doi.org/10.1007/BF00442193