X-autosome and X-Y translocations in female carriers: X-chromosome inactivation easily detectable by 5-ethynyl-2-deoxyuridine (EdU)

Donat, M; Louis, A; Kreskowski, K; Ziegler, M; Weise, A; Schreyer, I; Liehr, T

doi:10.1515/bjmg-2017-0012

Abstract

Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosome inactivation was determined on single cell level using 5-ethynyl-2-deoxyuridine (EdU). Thus, we confirmed that the recently suggested EdU approach can be simply adapted for routine diagnostic use. The latter is important, as only by knowing the real pattern of the skewed X-chromosome inactivation, correct interpretation of obtained results and subsequent reliable genetic counseling, can be done.

References

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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
Starmer J, Magnuson T. A new model for random X chromosome inactivation. Development. 2009; 136(1) :1-10.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article
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.
Search in Google Scholar Back to article

X-autosome and X-Y translocations in female carriers: X-chromosome inactivation easily detectable by 5-ethynyl-2-deoxyuridine (EdU)

Abstract

Paradigm

My account