Summary
A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being 47,XX,+del 14(q24). Chromosome analysis of the parents was normal.
Similar content being viewed by others
References
Allderdice, P. W., Miller, O. J., Miller, D. A., Breg, W. R., Gendel, E., Zelson, C.: Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence. Humangenetik 13, 205–209 (1971)
Coco, R., Penchaszadeh, V. B.: Partial trisomy 14q and familial translocation (2;14)(q12;q13). Ann. Genet. (Paris) 20, 41–44 (1977)
Fryns, J. P., Cassiman, J. J., van den Berghe, H.: Tertiary partial trisomy 47,XX,+14q-. Humangenetik 24, 71–77 (1974)
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)
Kajii, T., Ohama, K., Ferrier, A.: Trisomy 14 in spontaneous abortus. Humangenetik 15, 265–267 (1972)
Laurent, C., Dutrillaux, B., Biemond, 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 (1973)
Muldal, S., Enoch, B. A., Ahmed, A., Harris, R.: Partial trisomy 14q and pseudoxanthoma elasticum. Clin. Genet. 4, 480 (1973)
Pena, D. J. S., Ray, M., McAlpine, P. J., Ducasse, C., Briggs, J., Hamerton, J.: Tertiary trisomy 14: Is there a syndrome? Birth Defects: Orig. Art. Ser., Vol. XII, 5, 113–118 (1976)
Pfeiffer, R. A., Buttinghaus, K., Struck, H.: Partial trisomy 14, following a balanced reciprocal translocation t(14q-;21q+). Humangenetik 20, 187–189 (1973)
Raoul, O., Rethoré, M. O., Dutrillaux, B., Michon, L., Lejeune, J.: Trisomie 14q partielle. I. Trisomie 14q partielle par translocation maternelle t(10;14)(p15.2;q22). Ann. Genet. (Paris) 18, 35 (1975)
Reiss, J. A., Wyandt, H. E., Magenis, R. E., Lovrien, E. W., Hecht, F.: Mosaicism with translocation, autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-). J. Med. Genet. 9, 280 (1972)
Rethoré, M. O., Couturier, J., Carpentier, S., Ferrand, J., Lejeune, J.: Trisomie 14 en mosaique chez une enfant multimalformeé. Ann. Genet. (Paris). 18, 71–74 (1975)
Short, E. M., Solitare, G. B., Brag, W. R.: A case of partial 14 trisomy 47,XY (19q-)+and translocation t(9p+;14q-) in mother and brother. J. Med. Genet. 9, 367 (1972)
Turleau, C., de Grouchy, J., Bocquentin, F., Roubin, M., Chavin-Colin, F.: La trisomie 14q partielle. II. Trisomie 14q partielle par translocation maternelle t(12;14)(q24.4;q21). Ann. Genet. (Paris) 18, 41 (1975)
Yeatman, G. W., Riccardi, V. M.: Partial trisomy 14:(+14q-). Birth Defects: Orig. Art. Ser., Vol. XII, 5, 119–124 (1976)
Young, R. S., 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)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pajares, I.L., Delicado, A., Cobos, P.V. et al. Partial trisomy 14q. Hum Genet 46, 243–247 (1979). https://doi.org/10.1007/BF00291928
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00291928