Human Genetics

, Volume 55, Issue 2, pp 209–222 | Cite as

Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing

A study of 151 human translocations
  • P. Jalbert
  • B. Sele
  • H. Jalbert
Original Investigations


The study of 151 reciprocal translocations associated with abnormal probands shows that the mode of imbalance at birth is determined by the nature of the involved chromosomes and by the position of the breakpoints. For each of the three modes (adjacent-1, adjacent-2, and 3:1) there is a corresponding pachytene diagram, so that for each translocation variety it is possible to predict the most probable mode of imbalance. The determining factor is the relative length of the different branches of the cross formed by the tetravalent. However, some heterochromatic regions (9qh, short arms of acrocentric chromosomes) and possible R-negative regions have a minor role. The factors involved in these mechanisms seem to be the selection and the chiasma position; their respective roles are discussed.


Internal Medicine Metabolic Disease Determine Factor Minor Role Relative Length 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Abrisqueta, J. A., Perez, A., Aller, V., Del Mazo, J., Goday, C., Martin, M. A., De Torres, M. L.: Cri du chat syndrome and translocation t(5p-;18p+). J. Genet. Hum. 24, 173–182 (1976)Google Scholar
  2. Abuelo, D., Peri, D. P., Henkle, C., Richardson, A.: Partial trisomy 8 (trisomy 8q2106→8qter). J. Med. Genet. 14, 463–465 (1977)Google Scholar
  3. 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)Google Scholar
  4. Andrle, M., Erlach, A., Killian, W., Rett, A.: Two cases of trisomy 4p with translocation t(4p-;7q+) in several members of one family. Hum. Genet. 33, 155–160 (1976)Google Scholar
  5. Archidiacono, N., Rocchi, M., De Vonderweid, U., Filippi, G.: t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring. Hum. Genet. 40, 325–331 (1978)Google Scholar
  6. Armendares, S., Salamanca-Gomez, F., Nava, S., Ramires, S., Cantú, J. M.: The 12p trisomy syndrome. Ann. Genet. (Paris) 18, 89–94 (1975)Google Scholar
  7. Armendares, S., Salamanca-Gomez, F.: Partial 2p trisomy (p21→pter) in two siblings of a family with a 2p-;15q+ translocation. Clin. Genet. 13, 17–24 (1978)Google Scholar
  8. Aurias, A., Turc, Cl., Michiels, Y., Sinet, P. M., Graveleau, D., Lejeune, J.: Deux cas de trisomie 11q (q231→qter) par translocation t(11;22)(q231;q111) dans deux familles différentes. Ann. Genet. (Paris) 18, 185–188 (1975)Google Scholar
  9. Ayraud, N., Galiana, A., Lloyd, M., Deswarte, M.: Trisomie 11q (q231→qter) par translocation maternelle t(11;22)(q231;q111). Une nouvelle observation. Ann. Genet. (Paris) 19, 65–68 (1976)Google Scholar
  10. Baccichetti, C., Tenconi, R., Anglani, F., Zacchello, F.: Trisomy 4q32→4qter due to a maternal 4/21 translocation. J. Med. Genet. 12, 425–427 (1975)Google Scholar
  11. Back, E., Vogel, W., Hertel, C., Schuchmann, L.: Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship. Hum. Genet. 41, 11–17 (1978)Google Scholar
  12. Balicek, P., Zizka, J., Lichy, J.: A case of trisomy 9p in a family with translocation 9/15. Humangenetik 27, 353–358 (1975)Google Scholar
  13. Ballesta, F., Vehi, L.: Trisomie partielle pour la partie distale du bras court du chromosome 3. Ann. Genet. (Paris) 17, 287–290 (1974)Google Scholar
  14. Bartsch-Sandhoff, M., Liersch, R.: Partial duplication 5q syndrome: phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33→5qter and partial deficiency 8p23→pter). Ann. Genet. (Paris) 20, 281–284 (1977)Google Scholar
  15. Bass, H. N., Sparkes, R. S., Crandall, B. F., Galos, K. J., Howard, J.: A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child. Ann. Genet. (Paris) 21, 56–59 (1978)Google Scholar
  16. Bauknecht, T., Betteken, F., Vogel, W.: Trisomy 4p due to a paternal t(4p-;16p+) translocation. Hum. Genet. 34, 227–230 (1976)Google Scholar
  17. Bergamo, F., Crosato, F., Francesconi, D., Pasquali, F., Zuffardi, O.: The 9p- deletion syndrome. A patient with a 45,XX,-9,-15,+t(9/15) constitution due to maternal 3:1 meiotic disjunction. Clin. Genet. 11, 219–223 (1977)Google Scholar
  18. Berger, R., Turc, C., Wachter, H., Begue, G.: Partial 7q trisomy. Clin. Genet. 11, 39–42 (1977)Google Scholar
  19. Biederman, B., Bowen, P.: Partial trisomy 4q due to familial 2/4 translocation. Hum. Genet. 33, 147–153 (1976)Google Scholar
  20. Biederman, B., Bowen, P., Robertson, C., Schiff, D.: Partial trisomy 12p due to t(12;21)pat translocation. Hum. Genet. 36, 35–41 (1977)Google Scholar
  21. Blank, C. E., Colver, D. C. B., Potter, A. M., McHugh, J., Lorber, J.: Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9. Clin. Genet. 7, 261–273 (1975)Google Scholar
  22. Breuning, M. H., Bijlsma, J. B., France, H. F. de: Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome? Hum. Genet. 38, 7–13 (1977)Google Scholar
  23. Brimblecombe, F. S. W., Lewis, F. J., Vowles, M.: Complete 5p trisomy: 1 case and 19 translocations in 6 generations. J. Med. Genet. 14, 271–275 (1977)Google Scholar
  24. Canki, N., Debevec, M., Rainer, S., Réthoré, M. O.: Trisomie 4q26→4qter par translocation t(4;18)(q26;q23)mat. Ann. Genet. (Paris) 20, 195–198 (1977)Google Scholar
  25. Cantu, J. M., Salamanca-Gomez, F., Buentello, L., Carnevale, A., Armendares, S.: Trisomy 10p. A report of two cases due to a familial translocation rcp(10;21)(p11;p11). Ann. Genet. (Paris) 18, 5–11 (1975)Google Scholar
  26. Castel, Y., Riviere, D., Boucly, J. Y., Toudic, L.: Trisomie 15q partielle par translocation maternelle t(7;15)(q35;q14). Ann. Genet. (Paris) 19, 75–79 (1976)Google Scholar
  27. Centerwall, W. R., Miller, K. S., Reeves, L. M.: Familial “partial 9p” trisomy: six cases and four carriers in three generations. J. Med. Genet. 13, 57–61 (1976)Google Scholar
  28. Centerwall, W., Francke, U.: Familial trisomy 20p. Five cases and two carriers in three generations. A review. Ann. Genet. (Paris) 20, 77–83 (1977)Google Scholar
  29. Cervenka, J., Djavadi, G. R., Gorlin, R. J.: Partial trisomy 4q syndrome: case report and review. Hum. Genet. 34, 1–7 (1976)Google Scholar
  30. Chaganti, R. S. K., Morillo-Cucci, G., Friis, L., Degnan, M., German, J.: De novo appearance of a translocation t(5p;21q) and its transmission in both balanced and unbalanced forms to the next generation. Ann. Genet. (Paris) 19, 43–48 (1976)Google Scholar
  31. De la Chapelle, A., Koivisto, M., Schroder, J.: Segregating reciprocal (4;21)(q21;q21) translocation with proposita trisomic for parts of 4q and 21. J. Med. Genet. 10, 384–389 (1973)Google Scholar
  32. Chiyo, H. A., Nakagome, Y., Matsui, I., Kuroki, Y., Kobayashi, H., Ono, K.: Two cases of 8p trisomy in one sibship. Clin. Genet. 7, 328–333 (1975)Google Scholar
  33. Chiyo, H. A., Kuroki, Y., Matsui, I., Niitsu, N., Nakagome, Y.: A case of partial trisomy 3q. J. Med. Genet. 13, 525–527 (1976)Google Scholar
  34. Coco, R., Penchaszadeh, V. B.: Partial trisomy 14q and familial translocation (2;14)(q12;q13). Ann. Genet. (Paris) 20, 41–44 (1977)Google Scholar
  35. Cohen, M. M., Ornoy, A., Rosenmann, A., Kohn, G.: An inherited translocation t(4;15)(p16;q22) leading to two cases of partial trisomy 15. Ann. Genet. (Paris) 18, 99–103 (1975a)Google Scholar
  36. Cohen, M. M., Davidson, R. G., Brown, J. A.: A familial F/G translocation t(20p-;22q+) observed in three generations. Clin. Genet. 7, 120–127 (1975b)Google Scholar
  37. Dallapiccola, B., Mastroiacovo, P. P., Montali, E., Sommer, A.: Trisomy 4p: five new observations and overview. Clin. Genet. 12, 344–356 (1977)Google Scholar
  38. Daniel, A.: Structural differences in reciprocal translocations. Potential for a model of risk in Rep. Hum. Genet. 51, 171–182 (1979)Google Scholar
  39. Darmady, J. M., Seabright, M.: A family with an inherited translocation involving the no.4/no. 21 chromosomes. J. Med. Genet. 12, 408–411 (1975)Google Scholar
  40. Dutrillaux, B., Laurent, C., Forabosco, A., Noel, B., Suerinc, E., Biemont, M. Cl., Cotton, J. B.: La trisomie 4q partielle. A propos de 3 observations. Ann. Genet. (Paris) 18, 21–27 (1975)Google Scholar
  41. Evans, H. J.: Molecular architecture of human chromosomes. Br. Med. Bull. 29, 196–202 (1973)Google Scholar
  42. Forabosco, A., Dutrillaux, B., Toni, G., Tamborino, G., Cavazzutti, G.: Translocation équilibrée t(2;13)(q32;q33) familiale et trisomie 2q partielle. Ann. Genet. (Paris) 16, 255–258 (1973)Google Scholar
  43. Fraisse, J., Lauras, B., Laselve, A., Freycon, F.: Deux nouveaux cas de trisomie 10q24→10qter chez deux soeurs par translocation paternelle t(9;10)(q34;q24). Ann. Genet. (Paris) 20, 128–131 (1977)Google Scholar
  44. Fried, K., Tieder, M., Beer, S., Rosenblatt, M., Krespin, H. I.: Mental retardation with 45 chromosomes, 45,XX,-5,-14, +der(5),t(5;14)(p15;q13)mat due to familial balanced reciprocal translocation. J. Med. Genet. 14, 68–72 (1977)Google Scholar
  45. Fried, K., Bar-Yochai, A., Rosenblatt, M., Mundel, G.: Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation. J. Med. Genet. 15, 76–78 (1978)Google Scholar
  46. Fryns, J. P., Van Eygen, M., Tanghe, W., Van den Berghe, H.: Partial trisomy 14q due to familial t(14q-;11q+) translocation. Hum. Genet. 37, 105–110 (1977)Google Scholar
  47. Garlinger, P., McGeary, S. A., Magenis, E.: Partial trisomy 22: a recognizable syndrome. Clin. Genet. 12, 9–16 (1977)Google Scholar
  48. Garrett, J. H., Finley, S. C., Finley, W. H.: Fetal loss and familial chromosome 1 translocations. Clin. Genet. 8, 341–348 (1975)Google Scholar
  49. Genest, P., Roussy, J., Genest, F. B., Dumas, L.: La trisomie 9p. Un cas de translocation t(9;22)(p11;p11)mat chez une fillette. Union Med. Can. 106, 956–959 (1977)Google Scholar
  50. Giovannelli, G., Forabosco, A., Dutrillaux, B.: tTranslocation familiale t(4;22)(p11;p12) et trisomie 4p chez deux germains}. Ann. Genet. (Paris) 17, 119–124 (1974)Google Scholar
  51. Giraud, F., Mattei, J. F., Mattei, M. G., Bernard, R.: Trisomie partielle 11q et translocation familiale 11–22. Humangenetik 28, 343–347 (1975)Google Scholar
  52. Giraud, F., Mattei, J. F., Mattei, M. G.: Trisomie 13 partielle par translocation t(2;13) maternelle. Ann. Genet. (Paris) 20, 203–208 (1977)Google Scholar
  53. Grace, E., Sutherland, G. R., Stark, G. D., Bain, A. D.: Partial trisomy of 7q resulting from a familial translocation. Ann. Genet. (Paris) 16, 51–54 (1973)Google Scholar
  54. Hadebank, M., Faust, J.: Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11). Hum. Genet. 42, 251–256 (1978)Google Scholar
  55. Hamerton, J.: Chromosome translocations. In: Human Cytogenetics, Vol. I, pp. 247–272. New York, London: Academic Press 1971Google Scholar
  56. Hansteen, I. L., Schirmer, L., Hestetun, S.: Trisomy 12p syndrome. Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring. Clin. Genet. 13, 339–349 (1978)Google Scholar
  57. Hobolth, N., Jacobsen, P., Mikkelsen, M.: Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother. J. Med. Genet. 11, 299–302 (1974)Google Scholar
  58. Hoo, J. J.: 12p trisomy: a syndrome? Ann. genet. (Paris) 19, 261–263 (1976)Google Scholar
  59. Howard-Peebles, P. N., Yarbrough, K. M., Stoddard, G. R., Rary, J. M.: Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13qter→ 13q12). Clin. Genet. 11, 46–52 (1977)Google Scholar
  60. Hustinx, Th. W. J., Ter Haar, B. G. A., Scheres, J. M. J. C., Rutten, F. J.: Trisomy for the short arm of chromosome no. 10. Clin. Genet. 6, 408–415 (1974)Google Scholar
  61. Hustinx, Th. W. J., Gabreels, F. J. M., Kirkels, V. G. H. J., Korten, J. J., Scheres, J. M. J. C., Joosten, E. M. G., Rutten, F. J.: Trisomy 4p in a family with a t(4;15). Ann. Genet. (Paris) 18, 13–19 (1975)Google Scholar
  62. Issa, M., Potter, A. M., Blank, C. E.: Multiple congenital defects associated with trisomy for long arm of no. 4. J. Med. Genet. 13, 326–329 (1976)Google Scholar
  63. Jacobs, P. A., Frackiewicz, A., Law, P., Hilditch, J., Morton, N. E.: The effect of structural aberrations of the chromosomes on reproductive fitness in man. II. Results. Clin. Genet. 8, 169–178 (1975)Google Scholar
  64. Jalbert, P., Sele, B.: Factors predisposing to adjacent-2 and 3:1 disjunctions: study of 161 human reciprocal translocations. J. Med. Genet. 16, 467–478 (1979)Google Scholar
  65. Jenkins, M. B., Boyd, L.: Reciprocal translocation, 4q-;21p+, giving rise to Down's syndrome. J. Med. Genet. 13, 323–326 (1976)Google Scholar
  66. Johnson, G., Bachman, R.: A 46,XX,del(18)(pter→p1100) cebocephalic child from a 46,XX,t(12;18)(18pter→18p1100:: 12qter→12pter) normal parent. Hum. Genet. 34, 103–106 (1976)Google Scholar
  67. Johnson, G., Bachman, R., Roed, T., Riddervold, P.: Partial trisomy 10p and familial translocation t(7;10)(p22;p12). Hum. Genet. 35, 353–356 (1977)Google Scholar
  68. Jotterand, M., Juillard, E.: A new case of trisomy for the distal part of 13q due to maternal translocation t(9;13)(p21;q21). Hum. Genet. 33, 213–222 (1976)Google Scholar
  69. Kajii, T., Meylan, J., Mikamo, K.: Chromosome anomalies in three successive abortuses due to paternal translocation t(13q-;18q+). Cytogenet. Cell Genet. 13, 426–436 (1974)Google Scholar
  70. Kessel, E., Pfeiffer, R. A.: 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22. Hum. Genet. 37, 111–116 (1977)Google Scholar
  71. Krøyer, S., Niebuhr, E.: Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23). Ann. Genet. (Paris) 18, 50–55 (1975)Google Scholar
  72. Kurnit, D. M.: Satellite DNA and heterochromatin variants: the case for inequal mitotic crossing-over. Hum. Genet. 47, 169–186 (1979)Google Scholar
  73. Lange, M., Alfi, O. S.: Trisomy 19q. Ann. Genet. (Paris) 19, 17–21 (1976)Google Scholar
  74. Larson, L. M., Wasdahl, W. A., Jalal, S. M.: Partial trisomy 7p associated with familial 7p;22q translocation. J. Med. Genet. 14, 258–261 (1977)Google Scholar
  75. Laurent, C., Dutrillaux, B., Biemont, M. Cl., Genoud, J., Bethenod, M.: Translocation t(14q-;21q+) chez le père; trisomie 14 et monosomie 21 partielles chez la fille. Ann. Genet. (Paris) 16, 281–284 (1973)Google Scholar
  76. Laurent, C., Biemont, M. Cl., Bethenod, M., Cret, L., David, M.: Deux observations de trisomie 11q (q231→qter) avec la même anomalic des organes génitaux externes. Ann. Genet. (Paris) 18, 179–184 (1975)Google Scholar
  77. Laurent, C., Biemont, M. Cl., Guibaud, P., Guillot, J., Noel, B., Quack, B., Genevieve, M., Cressens, M. L.: Sept cas de trisomie 2q34→2qter par transmission familiale d'une translocation t(2;8)(q34;p23). Ann. Genet. (Paris) 21, 13–18 (1978)Google Scholar
  78. 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)Google Scholar
  79. Lurie, I. W., Lazjuk, G. I., Gurevich, D. B., Kravtzova, G. I., Nedzved, M. K., Shved, I. A.: Partial trisomy 10p in two generations. Hum. Genet. 41, 235–241 (1978)Google Scholar
  80. 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)Google Scholar
  81. Mason, M. K., Spencer, D. A., Rutter, A.: A case of partial (9p) trisomy in a family with a balanced translocation 46,XX, t(1p+;9q-). J. Med. Genet. 12, 310–315 (1975)Google Scholar
  82. Moirot, H., Fessard, Cl., Hemet, J.: Trisomie 9p par t(2;9) (q36;q31)mat. Ann. Genet. (Paris) 20, 45–51 (1977)Google Scholar
  83. Moric-Petrovic, S., Laca, Z., Krajgher, A.: Translocation réciproque dans la famille de deux proposants avec une trisomie partielle du chromosome 7q. Ann. Genet. (Paris) 19, 133–136 (1976a)Google Scholar
  84. Moric-Petrovic, S., Laca, Z., Krajgher, A., Milosevic, J.: Deux cas de trisomie 10p partielle dus à une translocation parternelle t(10;18)(p13;q23). Ann. Genet. (Paris) 19, 195–197 (1976b)Google Scholar
  85. Mulcahy, M. T., Jenkyn, J.: The 9p trisomy syndrome: two further cases arising from different familial translocations. Clin. Genet. 8, 199–204 (1975)Google Scholar
  86. Nakagome, Y., Icnuma, K., Matsui, I.: Three translocations involving C or G group chromosomes. J. Med. Genet. 10, 174–177 (1973)Google Scholar
  87. Nakagome, Y., Kobayashi, H.: Trisomy of the short arm of chromosome 10. J. Med. Genet. 12, 412–414 (1975)Google Scholar
  88. Nakai, H., Yamamoto, Y., Kuroki, Y.: Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations. Hum. Genet. 51 349–355 (1979)Google Scholar
  89. Niazi, M., Coleman, D. V., Saldana-Garcia, P.: Partial trisomy 18 in a family with a translocation (18;21)(q21;q22). J. Med. Genet. 15, 148–151 (1978)Google Scholar
  90. Nielsen, J., Rasmussen, K., Lassen, L. B., Christiansen, F.: A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation. Hum. Genet. 32, 343–348 (1976)Google Scholar
  91. Nielsen, J., Vetner, M., Holm, V., Askjaer, S. A., Reske-Nielsen, E.: A newborn child with karyotype 47,XX,+der(12)(12pter →12q12::8q24→8qter),t(8;12)(q24;q12)pat. Hum. Genet. 35, 357–362 (1977)Google Scholar
  92. Noel, B., Quack, B., Réthoré, M. O.: Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin. Genet. 9, 593–602 (1976a)Google Scholar
  93. Noel, B., Levy, M., Réthoré, M. O.: Trisomie partielle du bras long du chromosome 11 par malségrégation d'une translocation maternelle t(11;22)(q231;q111). Ann. Genet. (Paris) 19, 137–139 (1976b)Google Scholar
  94. Orye, E., Verhaaren, H., Van den Bogaert-Van Heesvelde, A. M.: The 9p- deletion syndrome. Report of a patient with a 46,XX,9p- constitution due to a paternal t(9p-;15q+) translocation. Clin. Genet. 8, 349–357 (1975)Google Scholar
  95. Osztovics, M., Kiss, P.: Familial translocation t(2;5)(p23;q31). Clin. Genet. 8, 112–116 (1975)Google Scholar
  96. Pena, S. D. J., Ray, M., McAlpine, P. J., Ducasse, C., Briggs, J., Hamerton, J. L.: Tertiary trisomy 14: is there a syndrome? Birth Defects 12, 113–118 (1976)Google Scholar
  97. Penchaszadeh, V. B., Coco, R.: Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+;9q-). J. Med. Genet. 12, 301–304 (1975)Google Scholar
  98. Penchaszadeh, V. B., Coco, R.: Trisomy for the short arm of chromosome no. 10. J. Genet. Hum. 25, 221–227 (1977)Google Scholar
  99. Pfeiffer, R. A., Kessel, E.: Partial trisomy 15q1. Hum. Genet. 33, 77–83 (1976)Google Scholar
  100. Pfeiffer, R. A., Kessel, E. K., Soer, K. M.: Partial trisomies of chromosomes 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin. Genet. 11, 207–213 (1977)Google Scholar
  101. Philippe, N., Requin, C., Germain, D., Licheron, A., Hermier, M.: Trisomic 9p par translocation maternelle (9;22)(p11; q11). J. Genet. Hum. 23, 309–317 (1975)Google Scholar
  102. 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. Pediatr. 85, 92–95 (1974)Google Scholar
  103. Prieur, M., Forabosco, A., Dutrillaux, B., Laurent, C., Bernasconi, S., Lejeune, J.: La trisomie 10q24→10qter. Ann. Genet. (Paris) 18, 217–222 (1975)Google Scholar
  104. Raoul, O., Réthoré, M. O., Dutrillaux, B., Michon, L., Lejeune, J.: Trisomie 14q partielle. I. Trisomie 14q partielle par translocation maternelle t(10;14)(p152;q22). Ann. Genet. (Paris) 18, 35–39 (1975)Google Scholar
  105. Raoul, O., Carpentier, S., Dutrillaux, B., Mallet, R., Lejeune, J.: Trisomies partielles du chromosome 21 par translocation maternelle t(15;21)(q262;q21). Ann. Genet. (Paris) 19, 187–190 (1976)Google Scholar
  106. Réthoré, M. O., Dutrillaux, B., Lejeune, J.: Translocation 46,XX,t(15;21)(q13;q22.1) chez la mère de deux enfants atteints de trisomie 15 et de monosomie 21 partielles. Ann. Genet. (Paris) 16, 271–275 (1973a)Google Scholar
  107. Réthoré, M. O., Hoehn, H., Rott, H. D., Couturier, J., Dutrillaux, B., Lejeune, J.: Analyse de la trisomie 9p par dénaturation ménagée. A propos d'un nouveau cas. Humangenetik 18, 129–138 (1973b)Google Scholar
  108. Réthoré, M. O., Ferrand, J., Dutrillaux, B., Lejeune, J.: Trisomie 9p par t(4;9)(q34;q21)mat. Ann. Genet. (Paris) 17, 157–161 (1974)Google Scholar
  109. Réthoré, M. O., Kaplan, J. C., Junien, C. L., Cruveiller, J., Dutrillaux, B., Aurias, A., Carpentier, S., Lafourcade, J., Lejeune, J.: Augmentation de l'activité de la LDH-B chez un garçon trisomique 12p par malségrégation d'une translocation maternelle t(12;14)(q12;p11). Ann. Genet. (Paris) 18, 81–87 (1975)Google Scholar
  110. Rolland, M., Bourrouillou, G., Elana, G., Colombies, P., Regnier, C.: Trisomie 10p partielle d'origine paternelle. Deux nouvelles observations dans deux familles différentes. Ann. Genet. (Paris) 20, 209–213 (1977)Google Scholar
  111. Rosenmann, A., Isacson, M., Cohen, R., Segal, M., Cohen, M. M.: Partial trisomy 18 (q11→qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32;q11). Ann. Genet. (Paris) 21, 60–64 (1978)Google Scholar
  112. Roux, C., Taillemite, J. L., Baheux-Morlier, G.: Trisomie partielle 10q par translocation familiate t(10q-22q+). nn. Genet. (Paris) 17, 59–62 (1974)Google Scholar
  113. Rudak, E., Jacob, P. A., Yanagimachi, R.: Direct analyses of the chromosome constitution of human spermatozoa. Nature 274, 911–913 (1978)Google Scholar
  114. Saadi, A. A., Moghadam, H. A.: Partial trisomy of the long arm of chromosome 7. Clin. Genet. 9, 250–254 (1976)Google Scholar
  115. Sanchez, O., Mamunes, P., Yunis, J. J.: Partial trisomy 20 (20q13) and partial trisomy 21 (21pter→21q213). J. Med. Genet. 14, 459–462 (1977)Google Scholar
  116. Schinzel, A., Hayashi, K., Schmid, W.: Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13. Report of three cases. Hum. Genet. 32, 1–12 (1976)Google Scholar
  117. Schrott, H. G., Sakaguchi, S., Francke, U., Luzzatti, L., Fialkow, P. J.: Translocation t(4q-;13q+) in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation. J. Med. Genet. 11, 201–205 (1974)Google Scholar
  118. Schwanitz, G., Grosse, K. P.: Partial trisomy 4p with translocation 4p-;22p+ in the father. Ann. Genet. (Paris) 16, 263–266 (1973)Google Scholar
  119. Schwanitz, G., Schamberger, U., Rott, H. D., Wieczorec, V.: Partial trisomy 9 in the case of familial translocation 8/9 mat. Ann. Genet. (Paris) 17, 163–166 (1974)Google Scholar
  120. Schwanitz, G., Schmid, R. D., Grosse, G., Grahn-Liebe, E.: Translocation familiale 3/22 mat avec trisomie partielle 3q. J. Genet. Hum. 25, 141–150 (1977)Google Scholar
  121. Short, E. M., Solitare, G. B., Breg, W. R.: A case of partial 14 trisomy. 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother. J. Med. Genet. 9, 367–373 (1972)Google Scholar
  122. Sills, J. A., Buckton, K. E., Raeburn, J. A.: Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. J. Med. Genet. 13, 507–510 (1976)Google Scholar
  123. Simpson, J., Zellweger, H.: Partial trisomy 14q- and parental translocation of no. 14 chromosome. Report of a case and review of the literature. J. Med. Genet. 14, 124–127 (1977)Google Scholar
  124. Sparkes, R. S., Francke, U., Muller, H., Toomey, K.: Partial 4q duplication due to inherited der(20),t(4;20)(q25;q13)mat. Ann. Genet. (Paris) 20, 31–35 (1977)Google Scholar
  125. Stern, L. M., Murch, A. R.: Pseudohermaphroditism with clinical features of trisomy 18 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18) (p12;q11)mat. J. Med. Genet. 12, 305–308 (1975)Google Scholar
  126. Stoll, C., Messer, J., Vors, J.: Translocation t(2;14) équilibrée chez une mère et trisomie partielle d'une partie du bras court d'un chromosome no. 2 chez deux de ses enfants. Ann. Genet. (Paris) 17, 193–196 (1974)Google Scholar
  127. Stoll, C., Levy, J. M., Gardea, A.: Trisomy 9p in a girl whose mother has a translocation t(9;20)(q12;p13). Humangenetik 27, 269–274 (1975)Google Scholar
  128. Subrt, I., Blehova, B., Pallova, B.: Trisomy 9p resulting from maternal 9/21 translocation. Hum. Genet. 32, 217–220 (1976)Google Scholar
  129. Taylor, K. M., Wolfinger H. L., Brown, M. G., Chadwick, D. L., Francke, U.: Partial trisomy 20p derived from a t(18;20) translocation. Hum. Genet. 34, 155–162 (1976)Google Scholar
  130. Turleau, C., Grouchy, J. de: Trisomy 18qter and trisomy mapping of chromosome 18. Clin. Genet. 12, 361–371 (1977a)Google Scholar
  131. Turleau, C., Grouchy, J. de, Chavin-Colin, F., Roubin, M., Langmaid, H.: Trisomie 9p: deux nouvelles observations. Ann. Genet. (Paris) 17, 167–174 (1974)Google Scholar
  132. Turleau, C., Grouchy, J. de, Bocquentin, F., Roubin, M., Chavin-Colin, F.: Trisomie 14q partielle. II. Trisomie 14q partielle par translocation maternelle (12;14)(q244;q21). Ann. Genet. (Paris) 18, 41–44 (1975)Google Scholar
  133. Turleau, C., Doussau de Bazignan, M., Roubin, M., Grouchy, J. de: Trisomie 10p. Une observation ancienne précisée par marquage. Ann. Genet. (Paris) 19, 61–64 (1976)Google Scholar
  134. Turleau, C., Chavin-Colin, F., Grouchy, J. de, Repesse, G., Beauvais, P.: Familial t(X;2)(p223;q323) with partial trisomy 2q and male and female balanced carriers. Hum. Genet. 37, 97–104 (1977b)Google Scholar
  135. Vogel, W., Siebers, J. W., Reinwein, H.: Partial trisomy 7q. Ann. Genet. (Paris) 16, 277–280 (1973)Google Scholar
  136. Wilroy, R. S., Summit, R. L., Martens, P., Manford Gooch, W.: Partial monosomy and partial trisomy for different segments of chromosome 13 in several individuals of the same family. Ann. Genet. (Paris) 20, 237–242 (1977)Google Scholar
  137. Wright, Y., Clark, W. E., Breg, W. R.: Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation t(6p+;11q-). J. Med. Genet. 11, 69–76 (1974)Google Scholar
  138. Young, S. R., Donovan, D. M., Greer, H. A., Burch, K., Potter, D. C.: Tertiary trisomy 47,XX,+14q- resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24). Hum. Genet. 33, 331–334 (1976)Google Scholar
  139. Yunis, E., Silva, R., Giraldo, A. Trisomy 10p. Ann. Genet. (Paris) 19, 57–60 (1976)Google Scholar
  140. Yunis, E., Gonzales, J. T., De Caballero, O. M. T.: Partial trisomy 16q-. Hum. Genet. 38, 347–350 (1977a)Google Scholar
  141. Yunis, E., Giraldo, A., Zuniga, R., Egel, H., Ramirez, E.: Partial trisomy 4q. Ann. Genet. (Paris) 20, 243–248 (1977b)Google Scholar
  142. Yunis, E., Silva, R., Egel, H., Zuniga, R., De Caballero, O. M. T., Ramirez, E., De Ruiz, H. P.: Partial trisomy 5p. Hum. Genet. 43, 231–237 (1978)Google Scholar
  143. Zabel, B., Baumann, W.: Trisomie partielle pour la partie distale du bras long du chromosome 15 par translocation X/15 maternelle. Ann. Genet. (Paris) 20, 285–289 (1977)Google Scholar
  144. Zabel, B., Hansen, S., Hartmann, W.: Partial trisomy 2q and familial translocation t(2;12)(q31;q24). Hum. Genet. 32, 101–104 (1976)Google Scholar
  145. 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)Google Scholar

Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • P. Jalbert
    • 1
  • B. Sele
    • 1
  • H. Jalbert
    • 1
  1. 1.Laboratoire de CytogenetiqueHopital des SablonsGrenoble CedexFrance

Personalised recommendations