Summary
We describe a female new-born with partial trisomy of the long arm of chromosome 16. The chromosome anomaly was the result of an unbalanced segregation of a maternal translocation t(13;16)(p12;q23). Dynamic (RBG, GBG) banding and the Ag-NOR technique ascertained the reciprocal balanced maternal translocation between the 16q23→qter and 13q12→pter segments because nucleolar organizers were present on the tip of long arms of the derivative 16 maternal chromosome. As monosomy 13p has little or no deleterious effect we consider our case as exhibiting the phenotype of trisomy 16q23→qter free from any monosomic feature. Clinical effects are of less consequence as compared with previously published cases of partial trisomy 16q.
This is a preview of subscription content, log in via an institution to check access.
References
Balestrazzi P, Giovannelli G, Landucci Rubini L, Dala Piccola B (1979) Partial trisomy 16q resulting from maternal translocation. Hum Genet 49:229–235
Boue A, Boue J (1975) Chromosome abnormalities and abortion. In: Coutinho EM, Fuchs F (eds) Physiology and genetics of reproduction, part B. Plenum Press, New York, pp 317–339
Buckton KE, Barr DGD (1981) Partial trisomy for long arm of chromosome 16. J Med Genet 18:483
Calva P, Frias S, Carnevale A, Reyes P (1984) Partial trisomy 16q resulting from maternal translocation 11p/16q. Ann Génét (Paris) 27:122–125
Chandley AC, Christie S, Fletcher J, Frackiewicz A, Jacobs PA (1972) Translocation heterozygosity and associated subfertility in man. Cytogenetics 11:516–533
Creasy MR, Crolla JA, Alberman ED (1976) A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet 31:177–196
Davison EV, Beesley JR (1984) Partial trisomy 16 as a result of familial 16;20 translocation. J Med Genet 21:384–386
Dowman C, Lockwood D, Allanson J (1989) Familial translocation t(9;16). J Med Genet 26:525–528
Dutrillaux B, Couturier J (1981) Obtention et marquage des cellules en prophase ou prométhaphase. In: La pratique de l'analyse chromosomique. Masson, Paris, pp 62–68
Eriksson B, Fraccaro M, Hulten M, Lindsten J, Thoren C, Tiepolo L (1971) Structural abnormalities of chromosome 18. II-Two familial translocations, B/18 and 16/18, ascertained through unbalanced forms. Ann Génét (Paris) 14:281–290
Francke U (1972) Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet 24:189–213
Garau A, Crisponi G, Peretti D, Vanni P, Zuffardi O (1980) Trisomy 16q21→qter. Hum Genet 53:165–167
Hamerton JL (1971) Human cytogenetics. Vol 1: General cytogenetics. Academic Press, New York London, pp 247–254
Hatanaka K, Ozaki M, Suzuki M, Murata R, Fujita H (1984) Trisomy 16q13→qter in an infant from a t(11;16)(q25;q13) translocation-carrier father. Hum Genet 65:311–315
Hirai S, Ujiie J, Suzuki J, Hishiyama S, Tsukanishi A, Muramoto J, Kano H, Suzuki H (1981) Duplication of the long arm of chromosome 16. Jpn J Pediatr 34:1963–1967
Howell WM, Black DA (1980) Controlled silver-staining of nucleolus regions with a protective colloidal developer: on one step method. Experientia 36:1014–1015
Kajii T, Ferrier A, Nickawa N, Takahara H, Ohama K, Avirachan S (1980) Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet 55:87–98
Lessick ML, Israel J, Wong PWK, Szego K (1989) Partial trisomy 16q secondary to a maternal 9;16 translocation. J Med Genet 26:63–64
Neu RL, Ortega CC, Barg GA, Pinto W Jr, Gardner LI, Howell WM, Denton TE (1976) Inclusion of satellites in an 18/21 translocation chromosome revealed by ammoniacal-silver staining (sat-banding) in a case of partial trisomy 18. J Med Genet 13: 520–522
Nevin NC, Coffey WW, Nevin J Mc C, Reid M (1983) Partial trisomy 16q in two boys resulting from a maternal translocation t(15;16)(p12;q11). Clin Genet 24:373–379
Rethore MO, Lafourcade J, Couturier J, Harpey JP, Hamet M, Engler R, Alcindor LG, Lejeune J (1982) Augmentation d'activité de l'adénine phosphoribosyl-transférase chez un enfant trisomique 16q22.2→16qter par translocation t(16;21)(q22.2;q22.2) pat. Ann Génét (Paris) 25:36–42
Ridler MAC, Me Keown JA (1979) Trisomy 16q arising from a maternal 15p;16q translocation. J Med Genet 16:317–319
Schmickel R, Poznanski A, Himebaugh J (1975) 16q trisomy in a family with a balanced 15/16 translocation. Birth Defects 11: 229–236
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Savary, J.B., Vasseur, F., Manouvrier, S. et al. Trisomy 16q23→qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique. Hum Genet 88, 115–118 (1991). https://doi.org/10.1007/BF00204941
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00204941