Untitled Document

Full text in pdf format

Deletion/inversion in the X-chromosome and increased telomeric associations in a female with primary amenorrhea

Asha S. Multani^I; Vinod C. Shah^II; Dívya Singh^II; Nivedita Chakravarty^II; Niloufer J. Chinoy^II; Sen Pathak^I

^ICellullar Genetics Laboratory, Department of Cell Biology, The University of Texas M.D. Anderson Cancer Center, Box 181, 1515 Holcombe Blvd., Houston TX 77030, USA. Send correspondence to S.P.
^IIDepartment of Zoology, School of Sciences, Gujarat University, Ahmedabad-388001, India.

ABSTRACT

We describe a new case of a partial interstitial deletion and inversion of the long arm of the X-chromosome associated with a high incidence of telomeric associations in an 18-year old female who showed underdeveloped secondary sex characteristics; including small breasts and primary amenorrhea. Her karyotype was considered to be 46,X,del(Xg13 → q22)inv(X)(q23-q27). The buccal mucosal cells showed absence of a typical Barr body, and the 5'-bromo-2-deoxyuridine incorporation studies revealed that neither the normal X- nor the abnormal X-chromosome was late replicating. The case is .being presented for its extreme rarity.

Keywords: Deletion; inversion; telomeric associations; amenorrhea.

REFERENCES

Counter, C.M., Avilion, A.A., Le Feuvre, C.E., Stewart, N.G., Greider, C.W., Harley, C.B. and Bacchetti, S. (1992). Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity. EMBO J. 11: 1921-1929.

de la Chapelle, A., Schroder, J., Haahtela, T. and Aro, P. (1975). Deletion mapping of the human X chromosome. Hereditas 80: 113-120.

Dewald, G.W., Dahl, R.J., Spurbeck, J.L., Carney, J.A. and Gordon, H. (1987). Chromosomally abnormal clones and non-random telomeric translocations in cardiac myxomas. Mayo Clin. Proc. 62: 558-567.

Dhaliwal, M.K., Satya-Prakash, K.L., Davis, P.C. andPathak, S. (1994). High frequency of telomeric association in a family with multiple congenital neoplasia. In Vivo 8: 1023-1026.

Ferguson-Smith, M.A. (1965). Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2: 142-145.

Fitch, N., Victor, J., Richer, C., Pinsky, L. and Sitahal, S. (1982). Premature menopause due to a small deletion in the long arm of the X chromosome: A report of three cases and a review. Am. J. Obstet. Gynecol. 142: 968-972.

Fitzgerald, P.H. and Morris, C.M. (1984). Telomeric association in B-cell lymphoid leukemia. Hum. Genet. 67: 385-390.

Forabosco, A. and Dallapiccola, B. (1974). X-long arm deletion with features of Turner's syndrome (letter). Lancet 2: 403-404.

Goldman, B., Polani, P.E., Daker, M.G. and Angell, R.R. (1982). Clinical and cytogenetic aspects of X-chromosome deletions. Clin. Genet. 21: 36-52.

Harley, C.B. (1991). Telomere loss: Mitotic clock or genetic time bomb? Mutat. Res. 256: 271-282.

Howell, R.T., Kitchen, C. and Standen, G.R. (1993). Telomeric associations in a patient with B-cell prolymphocytic leukemia. Genes Chromosom. Cancer 7: 116-118.

Jacobs, P.A., Hamden, D.G., Buckton, K.E., Brown, W.M., King, M.J., McBride, J.A., MacGregor, T.N. and MacLean, N. (1961). Cytogenetic studies in primary amenorrhoea. Lancet 1: 1183-1189.

Jost, A. (1959-1960). The role of fetal hormones in prenatal development. In: "Harvey Lectures, Series 55". Academic Press, New York pp. 201-225.

Jost, A. (1972). A new look at the mechanisms controlling sex differentiation in mammals. John Hopkins Med. J. 130: 38.

Kovacs, G., Muller-Brechlin, R. and Szucs, S. (1987). Telomeric association in two human renal tumors. Cancer Genet. Cytogenet. 28: 363-366.

Lyon, M.F. (1961). Gene action in the X-chromosome of the mouse (Mus musculus I.) Nature 190: 372.

Mattei, M.G., Mattei, J.F., Vidal, J. and Giraud, F. (1981). Structural anomalies of the X-chromosome and inactivation center. Hum. Genet. 56: 401-408.

Mijin, K., Stolevic, E., Adzic, S., Laca, Z. and Markovic S. (1982). X long arm deletion with oligomenorrhea. J. Med. Genet. 19: 305-306.

Morgan, R., Jarzabek, V., Jaffe, J.P., Hecht, B.K., Hecht, F. and Sandberg, A.A. (1986). Telomeric fusion in pre T-cell acute lymphoblastic leukemia. Hum. Genet. 73: 260-262.

Pathak S. (1976). Chromosome banding techniques. J. Reprod. Med. 17: 25-28.

Pathak, S., Wang, Z., Dhaliwal, M.K. and Sacks, P.C. (1988). Telomeric association: Another characteristic of cancer chromosomes? Cytogenet. Cell. Genet. 47: 227-229.

Pathak, S., Dave, B.J. and Gagos, S.H. (1994a). Chromosome alterations in cancer development and apoptosis. In Vivo 8: 843-850.

Pathak, S., Risin, S., Brown, N.M. and Berry, K. (1994b). Telomeric association of chromosomes is an early manifestation of programmed cell death. Int. J. Oncol. 4: 323-328.

Polani, P.E. (1969). Chromosome phenotypes - sex chromosomes. In: "Proceedings of the III International Conference on Congenital Malformations." The Hague, Netherlands, 7-13 September (Clarke Fraser, F. and McKusick, V.A., eds.). Excerpta Medica, Amsterdam and New York, pp. 233-250.

Ruthner, U., Maschik, S., Friedrich, F. and Breitenecker, G. (1979). Partial long arm deletion of one X chromosome in a patient with secondary amenorrhea. Hum. Genet. 48: 135-137.

Seki, T., Fujimoto, S., Abe, S., Sasaki, M., Kawaguchi, I., Kikukawa, H., Kikuchi, Y. and Ichinoe, K. (1981). Long arm deletion of the X chromosome, 46,X,del(X)(q21), associated with gonadoblastoma. Jpn. J. Hum. Genet. 26: 307-312.

Summit, R.L., Tipton, R.E., Wilroy Jr., R.S., Martens, P.R. and Phelman, J.P. (1978). X-autosome translocations: A review: Birth Defects 14: 219-247.

Therman, E. (1983). Mechanisms through which abnormal X-chromosome constitutions affect the phenotype. In: "Cytogenetics of the Mammalian X Chromosome Part B: X Chromosome Anomalies and Their Clinical Manifestations". Alan R. Liss Inc., New York, pp. 159-173.

Therman, E. and Patau, K. (1974). Abnormal X chromosome in man: Origin, behavior and effects. Hum. Genet. 25: 1-16.

Therman, E., Sarto, G.E. and Patau, K. (1974). Center for Barr body condensation on the proximal part of human Xq: A hypothesis. Chromosoma 44: 361-366.

Therman, E., Sarto, G.E., Palmer, C.G., Kallio, H. and Denniston, C. (1979). Position of a human X inactivation center on Xq. Hum. Genet. 50: 59-64.

Wyss, D., Delozier, C.D., Daniell, J. and Engel, E. (1982). Structural anomalies of the X chromosome: Personal observations and review of non-mosaic cases. Clin. Genet. 21: 145-159.