참고문헌
- Frints SG, Fryns J, Lagae L, Syrrou M, Marynen P, Devriendt K. Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations. Ann Genet 2001;44:71-6. https://doi.org/10.1016/S0003-3995(01)01071-1
- Cameron IT, Buckton KE, Baird DT. X-Y translocation. A case report. Hum Genet 1984;67:457-9. https://doi.org/10.1007/BF00291411
- Delon B, Lallaoui H, Abel-Lablanche C, Geneix A, Bellec V, Benkhalifa M. Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea. Mol Hum Reprod 1997;3:439-43. https://doi.org/10.1093/molehr/3.5.439
- Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-102. https://doi.org/10.1126/science.252.5009.1097
- Yachelevich N, Gittler JK, Klugman S, Feldman B, Martin J, Brooks SS, et al. Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series. Am J Med Genet A 2011;155A:870-4.
- Schmidt M, Certoma A, Du Sart D, Kalitsis P, Leversha M, Fowler K, et al. Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome. Hum Genet 1990;84:347-52. https://doi.org/10.1007/BF00196232
- Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, et al. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A 2007;143A:1358-65. https://doi.org/10.1002/ajmg.a.31781
- Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. 3rd ed. New York: Oxford University Press, 2004;99.
- Ferreira SI, Matoso E, Pinto M, Almeida J, Liehr T, Melo JB, et al. X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation. Mol Cytogenet 2010;3:14. https://doi.org/10.1186/1755-8166-3-14
- Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, et al. Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. Hum Genet 2000;107:304-11. https://doi.org/10.1007/s004390000364
- Martin JR, Arici A. Fragile X and reproduction. Curr Opin Obstet Gynecol 2008;20:216-20. https://doi.org/10.1097/GCO.0b013e3282fe7254
- Yatsenko SA, Sahoo T, Rosenkranz M, Mendoza-Londono R, Naeem R, Scaglia F. Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]. Am J Med Genet A 2004;128A:72-7. https://doi.org/10.1002/ajmg.a.30094
- Guo QS, Qin SY, Zhou SF, He L, Ma D, Zhang YP, et al. Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and arraycomparative genomic hybridization. Eur J Clin Invest 2009;39:729-37. https://doi.org/10.1111/j.1365-2362.2009.02141.x
- Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, et al. Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. Hum Reprod 2011;26:3186-96. https://doi.org/10.1093/humrep/der266
- Gravholt CH, Fedder J, Naeraa RW, Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000;85:3199-202.
- Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995;57:1400-7.
- Palka-Bayard-de-Volo C, De Marco S, Chiavaroli V, Alfonsi M, Calabrese G, Chiarelli F, et al. Array-CGH characterization of a de novo t(X;Y) (p22;q11) in a female with short stature and mental retardation. Gene 2012;504:107-10. https://doi.org/10.1016/j.gene.2012.05.009