Summary
We report on a 46 year old female with a new chromosomal finding [46,XX/47,XXX/47,XX,+8] who was referred for ovarian failure. The clinical presentation was highly unusual and the patient does not exhibit the characteristic phenotype of trisomy 8 syndrome. Interphase cytogenetics using FISH-technique revealed discrepancies with a different population of cells when compared with its metaphase index. Therefore, it is advised that patients with mosaic karyotypes should be evaluated by analyzing metaphase as well as interphase nuclei labeled with chromosome specific molecular tags, especially in the situations where the incidence of a mosaic cell line is very low. Nevertheless, in a cost-conscious environment, we must exercise caution prior to making universal recommendations concerning the usefulness of medical devices which are increasing at a logarithmic rate.
Similar content being viewed by others
Article PDF
References
Buyse ML (1990): Birth defects encyclopedia. Center of Birth Defects Information Service, Dover, pp 351–352
Casey PA, Clark CE, Cowell HR (1981): 46,XY/48,XXY,+8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome. Clin Genet20: 60–63
de Grouchy J, Turleau C (1984): Clinical atlas of human chromosomes. John Wiley, New York, pp 124–133
Hoovers JMN, Oothuys JWE, de Visser M (1989): Mosaic 47,XY+8/48,XXXY in a mentally non-retarded man with phenotypical and neurological abnormalities. Clin Genet35: 446–449
Jones KL (1988): Smith's recognizable patterns of human malformation. W. B. Saunders, Philadelphia, pp. 26–29
Nevins JR (1994): Cell cycle targets of the DNA tumor viruses. Curr Opin Genet Dev1: 130–134
Riccardi VM (1977): Trisomy 8: An international study of 70 patients. Alan R. Liss, for the National Foundation-March of Dimes. New. York, BD: DAS XXIII (3C), pp 171–184
Schofield B, Babu A, Punales-Morejon D, Popescu S, Leiter E, Franklin B, Penchaszedeh VB (1992): Double mosaic aneuploidy: 45,X/47,XY+8 in a male infant. Am J Med Genet44: 7–10
Stalder GR, Buhler EM, Weber JR (1963): Possible trisomy in chromosome group 6–12. LancetI: 1379
Tegenkamp T, Gobrail M, Goodwin C, Swedlund S, Labidi F, Tegenkamp I (1980): Sex selection in a 45,X,−X/48,XY,+X+8 mosaic pseudo true hermaphrodite with multiple anomalies. Am J Hum Genet32: 133A
Verma RS, Babu A (1995): Human chromosomes: principles and techniques. McGraw Hill, New York
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Verma, R.S., Gogineni, S.K., Kleyman, S.M. et al. Retrieval of aneuploidy by fish-technique in a case with 46,XX/47,XXX/47,XX,+8. Jap J Human Genet 41, 215–219 (1996). https://doi.org/10.1007/BF01892630
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01892630