Summary
A tandem duplication of 5q13→5q22, visualized using GTG- and RBA-banding, was found in a mentally defective girl with craniofacial dysmorphy.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bartsch-Sandhoff, M., Liersch, R.: Partial duplication 5q syndrome: Phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33→5qter and partial deficiency 8q23→pter). Ann. Génét. (Paris) 20, 281–284 (1977)
Caspersson, T., Hulten, M., Lindsten, J., Zech, L.: Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man. Ann. Génét. (Paris) 14, 143–144 (1971)
De Grouchy, J., Turleau, C., Danis, F., Kohout, G., Briard, M.-L.: Trisomy 13qter by tandem duplication. 46,XX,dir.dup 13(q21→qter)9qh+. Ann. Génét. (Paris) 21, 247–251 (1978)
Dutrillaux, B., Laurent, C., Forabosco, A., Noel, B., Suerinc, E., Biemont, M.-C., Cotton, J.-B.:La trisomie 4q partielle. A propos de trois observations. Ann. Génét. (Paris) 18, 21–27 (1975)
Giraud F., Mattei, J.-F., Mattei, M.-G., Ayme, S., Bernard, R.: La trisomie 4p. A propos de 3 observations. Humangenetik 30, 99–108 (1975)
Jalbert, P., Jalbert, H., Sele, B., Mouriquand, C., Malka, J., Boucharlat, J., Pison, H.: Partial trisomy for the long arms of chromosome no.5 due to insertion and further “aneusomie de recombinaison”. J. Med. Genet. 12, 418–423 (1975)
Kessel, E., Pfeiffer, R. A., Baisch, C.: Postaxiale Polydaktylie als Kennzeichen einer partiellen Trisomie des langen Arms eines Chromosoms 13. Klin. Pädiat. (in press, 1979)
Osztovics, M., Kiss, P.: Familial translocation, t(2;5)(p23;q31). Clin. Genet. 8, 112–116 (1975)
Steffensen, D. M., Chu, E. H. Y., Speert, P. M., Wall, K., Mellinger, K., Kelch, R. P.: Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5 S ribosomal RNA. Hum. Genet. 36, 25–33 (1977)
Taylor, K. M., Francke, U., Brown, M. G., George, D. L., Kaufhold, M.: Inverted tandem (“mirror”) duplications in human chromosomes: inv dup 8p,4q,22q. Am. J. Med. Genet. 1, 3–19 (1977)
Vogel, W., Back, E., Imm, W.: Serial duplication of 10(q11→q22) in a patient with minor congenital malformations. Clin. Genet. 13, 159–163 (1978)
Warter, S., Ruch, J.-V., Lehmann, M.: Karyotype with chromosomal abnormality with various inherited defects in the offspring (Recombination Aneusomy). Hum. Genet. 20, 355–359 (1973)
Yunis, E., Gonzalez, J., Zunigar, R., Torres de Caballero, O. M., Mondragon, A.: Direct duplication 2p14→2p23. Hum. Genet. 48, 241–244 (1979)
Zabel, B., Baumann, W., Gehler, J., Conrad, G.: Partial trisomy for short and long arm of chromosome no.5. Two cases of two possible syndromes. J. Med. Genet. 15, 143–147 (1978)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kessel, E., Pfeiffer, R.A. Tandem duplication (5q13→22) in a mentally deficient girl. Hum Genet 52, 217–220 (1979). https://doi.org/10.1007/BF00271576
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00271576