Molina GO, Barrios MA, Méndez RLA, Amor MT, Rodríguez I

Language: Spanish
References: 16
Page: 1-7
PDF size: 406.15 Kb.

ABSTRACT

Introduction: A deletion is a structural aberration that greatly affects reproduction. It consists in the loss of a fragment of chromosomal material due to a defect in meiotic recombination resulting in an imbalance whose clinical consequences depend on the deleted size and the number or function of the genes it contains. It causes partial monosomy and generally has a deleterious effect.
Objective: Describe an Xq deletion in a patient with spontaneous and deferred abortions.
Case presentation: A peripheral blood karyotype was obtained at the cytogenetics laboratory of the National Center for Medical Genetics. The study was based on the lymphocyte culture microtechnique and GTG banding, according to standard laboratory techniques. Terminal deletion of the X chromosome (46, X, del (X), (q21.2)) was found in 15 cells.
Conclusions: Cytogenetic analysis is of special interest to karyotype-phenotype correlation and delineation, as well as to determine the pathophysiological causes of certain chromosomal syndromes, as in the case reported.

REFERENCES

1. Novo Villaverde, FJ. Genética humana. Conceptos, mecanismos y aplicaciones de la genética en el campo de la genética. Cap. 13. Madrid: Pearson Educación, S.A.; 2007. p. 180-7.

2. Lantigua CA. Introducción a la Genética Médica. Cap. 8. 2 ed. La Habana: Editorial Ciencias Médicas; 2011. p. 122- 3.

3. Robin GC, Ferte D. Infertilidad Femenina de origen endocrino. EME. Ginecología y Obstetricia. 2012;48(4):1­28.

4. Thompson & Thompson. Genética en Medicina. Cap. 5. 7 ed. España: Elsevier Masson; 2008. p. 64-74.

5. Lara Ml, Escalante C. Falla Ovárica Prematura. Rev Venez Endocrinol Metab. 2015;13(3)136-45.

6. Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Human Reproduction. 2006;21(6):1477-83.

7. Maraschio P, Tupler R, Barbierato L, Dainotti E. An analysis of Xq deletions. Hum Genet. 1996 Mar;97(3):375-81.

8. Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq Deletions in the human female: a hypothesis. Hum Genet. 1990 Jul;85(2):175­83.

9. Geerkens C, Just W, Vogel W. Deletions of Xq and growth deficit: a review. Am J Med Genet. 1994 Apr 1;50(2):105-13.

10. Trunca C, Therman E, Rosenwaks Z. The phenotypic effects of small, distal Xq deletions. Hum Genet. 1984;68:87-9.

11. Mercer CL, Lachlan K, Karcanias A. Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility. Eur J Med Genet. 2013 Jan;56(1):1-6.

12. Juárez RK, Lara AR, García OJ. Insuficiencia ovárica prematura: Una revisión. Rev. chil obstet Ginecol. 2012;77(2).

13. Tachdjian G, Aboura A. Cryptic Xp duplication including the SHOX gene in a woman with 46, X, Del(X), (q21.31) and premature ovarian failure. Hum Reprod. 2008;23:222-6.

14. Beke A, Piko H, Haltrich I. Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure. Molecular Cytogenetics. 2013;6:62.

15. Kuan LC, Su MT. A family with Xq22.3q25 interstitial deletion and normal ovarian function. Fertility and Sterility? July 2011;96(1).

16. Gardner RJM, Sutherland GR, Shaffer LG. Gametogenesis and conception, pregnancy loss and infertility. In: Chromosome abnormalities and genetic counseling. 4th ed. New York: Oxford University Press Inc; 2012.