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

• Autorzy: Myszka A. , Karpinski P. , Makowska I. , Lassota M. , Przelozna B. , Slezak R. , Sasiadek M.M.
• Języki publikacji: EN

Abstrakty

EN

We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X; 13)(p 11,2; p 13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST 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 include XIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.

Słowa kluczowe

EN

DNA methylation; duplication; X chromosome; translocation; fluorescence in situ hybridization; karyotype; chromosome; gene; patient; clinical symptom

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 3
• Opis fizyczny: p.331-335,fig.,ref.

Twórcy

autor

Myszka A.

• Department of Genetics, University of Rzeszow, Rzeszow, Poland
• Department of Genetics, Wrocław Medical University, Wrocław, Poland

autor

Karpinski P.

• Department of Genetics, Wrocław Medical University, Wrocław, Poland

autor

Makowska I.

• Department of Genetics, Wrocław Medical University, Wrocław, Poland

autor

Lassota M.

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

autor

Przelozna B.

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

autor

Slezak R.

• Department of Genetics, Wrocław Medical University, Wrocław, Poland

autor

Sasiadek M.M.

• Department of Genetics, Wrocław Medical University, Wrocław, Poland

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