Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 21, Pages 2816-2821Publisher
WILEY
DOI: 10.1002/ajmg.a.32521
Keywords
ring X chromosome; XIST gene; Kabuki syndrome; X chromosome inactivation; array CGH
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Funding
- Fondo de Investigaciones Sanitarias (FIS) [P1020028]
- Instituto de Salud Carlos III
- Ministerio de Sanidad y Consumo, Spain
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A ring X chromosome is found in about 60% 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 patients with clinical features resembling Kabuki syndrome and a mos45,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. (c) b2008 Wiley-Liss, Inc.
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