Summary
A female infant with 16q trisomy resulting from a paternally inherited balanced translocation is described and compared with five previously reported cases. All the babies were of low birth weight and expired within 1 year, with only one exception. Necropsy of the present case revealed atrial septal defect, single left lobe of the lung, anomalous lobulation of the liver, agenesis of the gall bladder, and anovestibular fistula.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Alfi O, Donnel GN, Grandall BF, Derencsenyi A, Menon R (1973) Deletion of the short arm of chromosome no. 9 (46,9p-): a new deletion syndrome. Ann Genet (Paris) 16:17–22
Balestrazzi P, Giovannelli G (1979) Partial trisomy 16q resulting from maternal translocation. Hum Genet 49:229–236
Eriksson B, Fraccaro M, Hultén M, Lindsten J, Thoren C, Tiepol L (1971) Structural abnormalities of chromosome 18. II. Two familial translocation, B/18 and 16/18, ascertained through unbalanced form. Ann Genet (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 R, Zuffardi O (1980) Trisomy 16q21→qter. Hum Genet 53:165–167
Hirai S, Ujiie J, Suzuki J, Ishiyama S, Tsukanishi A, Muramoto J, Kano H, Suzuki H (1981) Duplication of the long arm of chromosome 16. Jpn J Pediatr 34:1963–1967
Machin GA, Crolla JA (1974) Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik 23:183–198
Pergament E, Pietra GC, Kadotani T, Sato H, Berlow S (1970) A ring chromosome no. 16 in an infant with primary hypoparathyroidism. J Pediatr 76:745–751
Ridler MAC, Mckeown JA (1979) Trisomy 16q arising from a maternal 15q;16q translocation. J Med Genet 16:317–319
Schmickel P, Pozanski A, Himebangh J (1975) 16q trisomy in a family with a balanced 15/16 translocation. Birth Defects 5:229–236
Young RJ, Donovan DM, Greer HA, Burch K, Potter DC (1976) Tertiary trisomy 47,XX,+14q-resulting from maternal balanced translocation 46,XX,t(14;16)(q11;q24). Hum Genet 33:331–334
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Hatanaka, K., Ozaki, M., Suzuki, M. et al. Trisomy 16q13→qter in a infant from a t (11;16)(q25;q13) translocation-carrier father. Hum Genet 65, 311–315 (1984). https://doi.org/10.1007/BF00286525
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00286525