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DNA methylation analysis of ade novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome

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Abstract

We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balancedde novo translocation 46, X, t(X;13)(p11. 2;p13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere andXIST-region-specific probes, showed that theXIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes located on the translocated Xp did not includeXIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.

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Authors and Affiliations

  1. Department of Genetics, University of Rzeszów, Rzeszów, Poland

    A. Myszka

  2. Department of Genetics, Wrocław Medical University, Marcinkowskiego 1, 50-368, Wrocław, Poland

    A. Myszka, P. Karpiński, I. Makowska, R. Ślęzak & M. M. Sąsiadek

  3. Genetic Clinic at SP ZOZ No. 1, Rzeszów, Poland

    M. Lassota & B. Przelożna

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  1. A. Myszka
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  2. P. Karpiński
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  3. I. Makowska
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  4. M. Lassota
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  5. B. Przelożna
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  6. R. Ślęzak
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  7. M. M. Sąsiadek
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Correspondence to P. Karpiński.

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These authors contributed equally to this work

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Myszka, A., Karpiński, P., Makowska, I. et al. DNA methylation analysis of ade novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome. J Appl Genet 51, 331–335 (2010). https://doi.org/10.1007/BF03208863

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  • DOI: https://doi.org/10.1007/BF03208863

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