Abstract

Trisomy X females were first described by Jacobs et al. [ [1] Jacobs P.A. Baikie A.G. Court Brown W.M. Macgregor T.N. Maclean N. Harnden D.G. Evidence of the existence of the human “super female”. Lancet. 1959; 2: 423-425 Abstract PubMed Scopus (147) Google Scholar ]. The frequency has been estimated at one in 1000 women [ [2] Hamerton J.L. Canning N. Ray M. Smith S. A cytogenetic survey of 14,069 newborn infants: incidence of chromosome abnormalities. Clin Genet. 1975; 8: 223-243 Crossref PubMed Scopus (416) Google Scholar ]. Although the phenotype of trisomy X is not characteristic, association with mild mental retardation [ [3] Thompson J.S. Thompson M.W. Genetics in Medicine. W.B. Saunders Co., Philadelphia1980 Google Scholar ], ovarian failure [ [4] Collen R.J. Falk R.E. Lippe B.M. Kaplan S.A. A 48,XXXX female with absence of ovaries. Am J Med Genet. 1980; 6: 275-278 Crossref PubMed Scopus (13) Google Scholar ], or autoimmune disease [ [5] Goswami R. Goswami D. Kabra M. Gupta N. Dubey S. Dadhwal V. Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. Fertil Steril. 2003; 80: 1052-1054 Abstract Full Text Full Text PDF PubMed Scopus (77) Google Scholar ] has been described. Complication of several kinds of neoplasms, i.e., leukemias [ 6 Ozkaynak M.F. Ying K.L. Laug W.E. Triple X chromosome constitution and acute nonlymphocytic leukemia. Cancer Genet Cytogenet. 1988; 35: 1-3 Abstract Full Text PDF PubMed Scopus (6) Google Scholar , 7 Benitez J. Valearcel E. Ramos C. Ayuso C. Cascos A.S. Frequency of constitutional chromosome alterations in patients with hematologic neoplasias. Cancer Genet Cytogenet. 1987; 24: 345-354 Abstract Full Text PDF PubMed Scopus (52) Google Scholar ], Ewing sarcoma [ [8] Patino-Garcia A. Lopez de Mesa R. de Alava E. Sierrasesumaga L. Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome. Cancer Genet Cytogenet. 1999; 113: 188-190 Abstract Full Text Full Text PDF PubMed Scopus (6) Google Scholar ], and neuroblastoma [ [9] Gul D. Akin R. Kismet E. Neuroblastoma in a patient with 47,XXX karyotype. Cancer Genet Cytogenet. 2003; 146: 84-85 Abstract Full Text Full Text PDF PubMed Scopus (5) Google Scholar ], has also been reported. It remains unclear whether these tumors had incidentally occurred or been predisposed by the additional X chromosome. Accumulation of clinical data is important to discuss the relation between triple X chromosome and tumor pathogenesis. Therefore, we report the first case of trisomy X female who presented with gastric non-Hodgkin lymphoma (NHL).

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