Summary
An analysis of data about the+p9 syndrome revealed that this clinical entity may occur in some different genetic forms. The recurrence risk in cases with familial translocations is due to the type of meiotic segregation, 2:2 or 3:1. It was shown a nonrandomness of involvement of chromosomes 15 and 22 in translocations with chromosome number 9.
Similar content being viewed by others
References
Baccichetti, C., Tenconi, R.: A new case of trisomy for the short arm of No. 9 chromosome. J. med. Genet.10, 296–299 (1973)
Balicek, P., Zizka, J., Lichy, J.: A case of trisomy 9p in a family with translocation 9/15. Humangenetik27, 353–358 (1975)
Berger, R., Derre, J., Ortiz, M. A.: Les trisomies partielles du bras long du chromosome 7. Nouv. Presse méd.3, 1801–1804 (1974)
Butler, L. J., Eades, S. M., France, N. E.: Transmission of a translocation t(Cp+; Dq-) through three generations. Ann. Génét.12, 15–27 (1969)
Canki, N., Rethoré, M.-O., Ferrand, J., Lejeune, J.: Cited by M.-O. Rethoré and B. Dutrillaux (1974)
Cantu, J.-M., Buentello, L., Armendares, S.: Trisomie Cp: un nouveau syndrome. Ann. Génét.14, 177–186 (1971)
Chapelle, A. de la, Schroder, J., Stenstrand, K., Fellman, J., Herva, R., Saarni, M., Anttolainen, L., Tallila, I., Tervila, L., Husa, L., Tallquist, G., Robson, E. B., Cook, P. J. L., Sanger, R.: Pericentric inversions of human chromosomes 9 and 10. Amer. J. hum. Genet.26, 746–766 (1974)
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.18, 21–27 (1975)
Ebbin, A. J., Wilson, M. G., Towner, J. W., Slaughter, J. P.: Prenatal diagnosis of an inherited translocation between chromosomes No. 9 and 18. J. med. Genet.10, 65–69 (1973)
Edwards, J. H., Fraccaro, M., Davies, P., Young, R. B.: Structural heterozygosis in man: analysis of two families. Ann. hum. Genet.26, 163–178 (1962)
Eriksson, B., Fraccaro, M., Hulten, M., Lindsten, J., Tiepolo, L.: Unusual chromosomal mosaic (46,XX/46,XX,Cp+) in a girl with multiple malformations. Ann. Génét.11, 6–10 (1968)
Fraccaro, M., Hulten, M., Jayakar, S. D., Lindsjo, A., Lindsten, J., Tiepolo, L.: Additional G-like chromosome in a malformed boy. J. med. Genet.8, 244–249 (1971)
Fujita, H., Abe, T., Furuyama, J.: Three cases of partial trisomy 9. Jap. J. hum. Genet.19, 84–85 (1974a)
Fujita, H., Abe, T., Yamamoto, K., Furuyama, J.: Possible complex translocation t(9;14;13) (q12;p1?;q31) in a mother of a child with 9p- trisomy syndrome. Humangenetik25, 83–92 (1974b)
Gerald, P. S., Wertelecki, W.: The syndrome of trisomy for the short arm of chromosome No. 9, confirmed by fluorescence microscopy. Pediat. Res.5, 645 (1971)
Germain, D., Philippe, N., Hermier, M., Licheron, A., Requin, C., Pincon, J. A.: Trisomie pour les bras courts du chromosome 9 (syndrome+9p). A propos d'une observation par translocation maternelle 9–22. Lyon méd.233, 227–230 (1975)
Ghymers, D., Hermann, B., Disteche, C., Frederic, J.: Tetrasomie partielle du chromosome 9, a l'etat de mosaique, chez un enfant porteur de malformations multiples. Humangenetik20, 273–282 (1973)
Goodman, R. M., Katznelson, M. B.-M., Spero, M., Shaki, R., Padeh, B., Sadan, N.: The question of trisomy 22 syndrome. J. Pediat.79, 174–175 (1971)
Hall, B., Svenningsen, N.: An inherited B/C translocation in a dysplastic girl with partial C trisomy. Acta paediat. scand.58, 181–186 (1969)
Hoehn, H., Engel, W., Reinwein, H.: Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation. Humangenetik12, 175–181 (1971)
Hsu, L. Y. F., Shapiro, L. R., Gertner, M., Lieber, E., Hirschhorn, K.: Trisomy 22: a clinical entity. J. Pediat.79, 12–19 (1971)
Jacobsen, P., Hobolth, N., Mikkelsen, M.: Trisomy 9p in a patient with a de novo 9/15 translocation. Clin. Genet.7, 317–324 (1975)
Kaijser, K.: Case report of an extra, small, acrocentric chromosome in a non-mongoloid girl. Clin. Genet.5, 254–258 (1974)
Kaijser, K.: Personal communication (1975)
Lejeune, J., Berger, R., Rethoré, M.-O., Salmon, C., Kaplan, M.: Translocation Cc∼F familiale determinant une trisomie pour le bras court du chromosome 12. Ann. Génét.9, 12–18 (1966)
Lin, C. C., Holman, G., Sewell, L.: Inherited translocation t(9;11)(p13;p15) and partial trisomy 9p syndrome. Amer. J. hum. Genet.26, 54-A (1974)
Lindenbaum, R. H., Bobrow, M.: Reciprocal translocations in man. 3:1 meiotic disjunction resulting in 47- or 45-chromosome offspring. J. med. Genet.12, 29–43 (1975)
Lord, P. M., Casey, M. D., Laurance, B. M.: A new translocation between chromosomes in the 6–12 and 21–22 groups. J. med. Genet.4, 169–176 (1967)
Lurie, I. W.: Influence of the parental age on “de novo” translocations. Genetika (Moscow)8, No. 3, 148–152 (1972)
Lurie, I. W., Lazjuk, G. I.: Partial monosomies 18. Review of cytogenetical and clinical variants. Humangenetik15, 203–222 (1972)
Mason, M. K.: Personal communication (1972)
Mikelsaar, A.: Personal communication (1975)
Mikkelsen, M.: Personal communication (1975)
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)
Nielsen, J., Tsuboi, T., Friedrich, U., Mikkelsen, M., Lund, B., Steinicke, O.: Additional small acrocentric chromosome: two cases. J. ment. Defic. Res.13, 106–122 (1969)
Orye, E., Verhaaren, H., Egmond, H. van, Devloo-Blancquaert, A.: A new case of the trisomy 9p syndrome. Clin. Genet.7, 134–143 (1975)
Podruch, P. E., Weisskopf, B.: Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15p+; 9q-) in three generations. J. Pediat.85, 92–95 (1974)
Rethoré, M.-O., Dutrillaux, B., Giovannelli, G., Forabosco, A., Dallapiccola, B., Lejeune, J.: La trisomie 4p. Ann. Génét.17, 125–128 (1974a)
Rethoré, M.-O., Ferrand, J., Dutrillaux, B., Lejeune, J.: Trisomie 9p par t(4;9) (q34;q21) mat Ann. Génét.17, 157–161 (1974b)
Rethoré, M.-O., Hoehn, H., Rott, H.-D., Couturier, J., Dutrillaux, B., Lejeune, J.: Analyse de la trisomie 9p par denaturation menagee. A propos d'un nouveau cas. Humangenetik18, 129–138 (1973)
Rethoré, M.-O., Lafourcade, J.: Trisomie du bras court du chromosome 9: syndrome +9p. Journees parisiennes de Pediatrie, pp. 379–390. Paris: Flammarion 1974
Rethoré, M.-O., Larget-Piet, L., Abonyi, D., Boeswillwald, M., Berger, R., Carpentier, S., Cruveiller, J., Dutrillaux, B., Lafourcade, J., Penneau, M., Lejeune, J.: Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvelle entite morbide. Ann. Génét.13, 217–232 (1970)
Rott, H.-D., Schwanitz, G., Grosse, K.-P.: Partielle Trisomie C9 bei balancierter B4/C9-Translokation bei der Mutter. Z. Kinderheilk.109, 293–299 (1971)
Rutten, F. J., Scheres, J. M. J. C., Hustinx, T. W. J., Haar, B. G. A. ter: A presumptive tetrasomy for the short arm of chromosome 9. Humangenetik25, 163–170 (1974)
Schwanitz, G., Schamberger, U., Rott, H.-D., Wieczorek, V.: Partial trisomy 9 in the case of familial translocation 8/9 mat. Ann. Génét.17, 163–166 (1974)
Seabright, M., Gregson, N. M.: Personal communication (1975)
Stoll, C., Levy, J.-M., Gardea, A.: Trisomy 9p in a girl whose mother has a translocation t(9;20)(q12;p13). Humangenetik27, 269–274 (1975)
Turleau, C., Grouchy, J. de, Chavin-Colin, F., Roubin, M., Langmaid, H.: Trisomie 9p: deux nouvelles observations. Ann. Génét.17, 167–174 (1974)
Turleau, C., Plachot, M., Chavin-Colin, F., roubin, M., Langmaid, H., Cochet, C., Blanc-Brude, M., Lety, M.-A., Grouchy, J. de: Distribution des points de cassure chromosomique dans les remaniements constitutionnels. Lyon méd.233, 329–335 (1975)
Zaremba, J., Zdzienicka, E., Glogowska, I., Abramowicz, T., Taracha, B.: Four cases of 9p trisomy resulting from a balanced familial translocation (9;15)(q13;q11). Clinical picture and cytogenetic findings. J. ment. Defic. Res.18, 153–190 (1974)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Lurie, I.W., Lazjuk, G.I., Gurevich, D.B. et al. Genetics of the +p9 syndrome. Hum Genet 32, 23–33 (1976). https://doi.org/10.1007/BF00569973
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00569973