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Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy by Lucia M Moraes; Leila CA Cardoso; Vera LS Moura; Miguel AM Moreira; Albert N Menezes; Juan C Llerena; Héctor N Seuánez is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract ## Background Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a patient with 49,XXXXX pentasomy were functionally active following isolation in inter-specific (human-rodent) cell hybrids. A comparison with cytogenetic and molecular findings provided evidence that more than one active X chromosome was likely to be present in the cells of this patient, accounting for her abnormal phenotype. ## Results 5-bromodeoxyuridine (BrdU)-pulsed cultures showed different patterns among late replicating X chromosomes suggesting that their replication was asynchronic and likely to result in irregular inactivation. Genotyping of the proband and her mother identified four maternal and one paternal X chromosomes in the proband. It also identified the paternal X chromosome haplotype (P), indicating that origin of this X pentasomy resulted from two maternal, meiotic non-disjunctions. Analysis of the__HUMANDREC__region of the androgen receptor (__AR__) gene in the patient's mother showed a skewed inactivation pattern, while a similar an

Who reads Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy?

Author

Lucia M Moraes; Leila CA Cardoso; Vera LS Moura; Miguel AM Moreira; Albert N Menezes; Juan C Llerena; Héctor N Seuánez

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2008-; Springer Science and Business Media LLC (ISSN 1755-8166)

Published

2009

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)