A small and active ring x chromosome in a female with features of Kabuki syndrome

Authors

  • L. Rodríguez,

    Corresponding author
    1. Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    2. Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
    • CIAC, Instituto de Salud Carlos III, Sinesio Delgado 6, Pabellón 3, 28029 Madrid, Spain.
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  • D. Diego-Alvarez,

    1. Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
    2. Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain
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  • I. Lorda-Sanchez,

    1. Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
    2. Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain
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  • F.L. Gallardo,

    1. Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain
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  • M.L. Martínez-Fernández,

    1. Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
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  • M.E. Arroyo-Muñoz,

    1. Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain
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  • M.L. Martínez-Frías

    1. Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    2. Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
    3. Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
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  • How to cite this article: Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML. 2008. A small and active ring X chromosome in a female with features of Kabuki syndrome. Am J Med Genet Part A.

Abstract

A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X-inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient. © 2008 Wiley-Liss, Inc.

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