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

TitleA small and active ring X chromosome in a female with features of Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2008
AuthorsRodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML
JournalAmerican journal of medical genetics. Part A
Date Published2008 Nov 1

A ring X chromosomei is found in about 6% of patients with Turner syndromei (TS), often with mosaicism for a 45,X cell line. Patients with this karyotypei are reported to have a higher incidence of a more severe phenotypei 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 genei 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 genesi with possible implications in the phenotype of the patient.

Alternate JournalAm. J. Med. Genet. A
Citation Key18925662