title: A small and active ring X chromosome in a female with features of Kabuki syndrome.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics; D019175:DNA Methylation; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics; D009030:Mosaicism; D010641:Phenotype; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics; D012303:Ring Chromosomes; D013577:Syndrome; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics; D049951:X Chromosome Inactivation
chemical_list: D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; C077885:XIST non-coding RNA