X-AUTOSOME AND X-Y TRANSLOCATIONS IN FEMALE CARRIERS: X-CHROMOSOME INACTIVATION EASILY DETECTABLE BY 5-ethynyl-2-deoxyuridine (EdU)
Donat M1, Louis a2, Kreskowski K1, Ziegler M1, Weise a1, schreyer I1,3, Liehr t1,*
*Corresponding Author: Dr. thomas Liehr, Universtätsklinikum Jena, Institut für Humangenetik, am Klinikum 1, D-07747 Jena, Germany. tel: +49-3641-939-68-50. Fax. +49-3641-939-68-52. e-mail: thomas.Liehr@ med.uni-jena.de
page: 87

REFERENCES

1. Barr ML, Bertram eG. a morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature. 1949; 163(4148): 676. 2. Rinčić M, Iourov IY, Liehr T. Thoughts about SLC 16a2, tsIX and XIst gene like sites in the human genome and a potential role in cellular chromosome counting. Mol Cytogenet. 2016; 9(1): 56. 3. starmer J, Magnuson t. a new model for random X chromosome inactivation. Development. 2009; 136(1) :1-10. 4. Wolff DJ, schwartz s, Carrel L. Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome. Genet Med. 2000; 2(2): 136-141. 5. stankiewicz p, Kuechler a, eller CD, sahoo t, Baldermann C, Lieser U, et al. Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. am J Med Genet a. 2006; 140(5): 442-452. 6. sisdelli L, Vidi aC, Moysés-Oliveira M, Di Battista a, Bortolai a, Moretti-Ferreira D, et al. Incorporation of 5-ethynyl-2-deoxyuridine (edU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements. Hum Genet. 2016; 135(2): 185-192. 7. Liehr t, Heller a, starke H, Claussen U. FIsH banding methods: applications in research and diagnostics. expert rev Mol Diagn. 2002; 2(3): 217-225. 8. Weise a, Mrasek K, Fickelscher I, Claussen U, Cheung sW, Cai WW, et al. Molecular definition of high-resolution multicolor banding probes: First within the human DNa sequence anchored FIsH banding probe set. J Histochem Cytochem. 2008; 56(5): 487-493. 9. starke H, Nietzel a, Weise a, Heller a, Mrasek K, Belitz B, et al. small supernumerary marker chromosomes (sMCs): Genotype-phenotype correlation and classification. Hum Genet. 2003; 114(1): 51-67. 10. Liehr t, Heller a, starke H, rubtsov N, trifonov V, Mrasek K, et al. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med. 2002; 9(4): 335-339. 11. Karaer K, ergun Ma, Weise a, ewers e, Liehr t, Kosyakova N, et al. the case of an infertile male with an uncommon reciprocal X-autosomal translocation: How does this affect male fertility? Genet Couns. 2010; 21(4): 397-404. 12. Ledig s, preisler-adams s, Morlot s, Liehr t, Wieacker p. premature ovarian failure caused by a heterozygous missense mutation in pOF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3). sex Dev. 2015; 9(2): 86-90.



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