López-Uriarte A, Barboza CC, Gómez PV, Esmer SMC, Martínez VLE

Language: Spanish
References: 17
Page: 232-235
PDF size: 116.80 Kb.

ABSTRACT

Turner syndrome is a result of total or partial lack a second sex chromosome, half have monosomy X (45,X) the rest have any structural rearrangements of chromosomes X or are mosaics. In 4-20% is shown in a Y or its derivatives. The fact of having a correct cytogenetic diagnosis in girls with this syndrome, can better understand the genotype-phenotype relationship and provide better care. The following describes the experience, clinical and cytogenetic findings in a girl with Turner syndrome: in which Y chromosome material identified by cytogenetic and molecular analysis.

REFERENCES

1. Kofman-Alfaro S, Queipo G. Diferenciación sexual normal y patológica. Departamento Bioquímica, Facultad de Medicina, Universidad Nacional Autónoma de México, México, D.F. México. Mensaje Bioquímico. 2005; XXIX: 109-115.

2. Suri M, Kabra M, Jain U, Sanders V, Saxena R, Shukla A et al. A Clinical and Cytogenetic study of Turner Syndrome. Indian Pediatrics. 1995; 32; 433-42.

3. Telvi L, Lebbar A, Del Pino O, Barbet JP, Louis J. 45,X/46,XY Mosaicism: Report of 27 cases. Pediatrics. 1999; 104: 304-8.

4. Guedes AD, Bianco B, Lipay MVN, Brunoni D, Chauffaille ML, Verresch ITN. Determination of the Sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue. Am J Med Genet A. 2006; 140A: 1871-5.

5. Wolff DJ. Advances in laboratory evaluation of turner syndrome and its variants: beyond cytogenetics studies. Indian J Pediatr. 2000; 67(11): 825-9.

6. Álvarez-Nava F, Soto M, Martínez MC, Prieto M, Álvarez Z. FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum. Ann Genet. 2003; 46: 443-8.

7. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar Karyotype -17 new cases and a review of the literature. Sex Dev. 2007; 1: 353-62.

8. Premi S, Srivastava J, Panneer G, Ali S. Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner syndrome. PLoS One. 2008; 3(11): e3796.

9. Cassidy SB, Allanson JE. Management of Genetics Syndromes. 2nd edition, Wiley-Liss; 2005: 569-605.

10. Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA. Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature. 1986; 324: 163-6.

11. Willis MJH, Bird LM, Dell’Aquilla M, Jones MC. Natural history of prenatally diagnosed 46,X, isodicentric Y. Prenat Diagn. 2006; 26: 134-7.

12. Canto P, Kofman-Alfaro S, Jiménez AL, Sôderlund D, Barrón C, Reyes E et al. Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Cancer Genet Cytogenet. 2004; 150: 70-2.

13. Udler Y, Kauschansky A, Yeshaya J, Freedman J, Barkai U, Tobar A et al. Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female. Am J Med Genet. 2001; 102(4): 318-23.

14. DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Phenotypic variability in isodicentric Y patients: study of nine cases. Clin Genet. 2006; 70: 145-50.

15. Willis MJ, Bird LM, Dell’aquilla M, Jones MC. Natural history of prenatally diagnosed 46,X, isodicentric Y. Prenat Diagn. 2006; 26: 134-7.

16. Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S et al. Gonadoblastoma in Turner syndrome and Y-Chromosome-derived material. Am J Med Genet. 2005; 135A: 150-4.

17. Ferguson-Smith MA, Boyd E, Ferguson-Smith ME, Pritchard JG, Yusuf AFM, Gray B. Isochromosome for long arm of Y chromosome in patient with Turner’s syndrome and sex chromosome mosaicism (45,X/46,XYqi). J Med Genet. 1969; 6(4); 422-5.