Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression

Pen Hua Su, Pao Lin Kuo, Suh Jen Chen, Jia Yuh Chen, Ju Shan Yu, Yuh Ling Liu, I. Wen Kao

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


Kabuki make-up syndrome (Niikawa-Kuroki syndrome) is a rare congenital disorder of unknown etiology characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatologic patterns. The latter include long palpebral fissures, broad eye brows sparse in the lateral half, prominent eyelashes, lower lateral palpebral ertropia, and depressed nasal tips. We describe a 13-year-old girl with short stature, delayed puberty, mental retardation, and typical face characteristics of Kabuki make-up syndrome. High-resolution banding chromosome analysis revealed a mos 45,X/46,X,r(X) karyotype. Fluorescence in situ hybridization detected a positive XIST gene signal. XIST expression was demonstrated by reverse transcription polymerase chain reaction using primers spanning exons 2, 3, 4, 5 in RNA prepared from lymphocytes. To our knowledge, this is the first description of Kabuki syndrome manifestation with r(X) and XIST expression in Taiwan.

Original languageEnglish
Pages (from-to)28-31
Number of pages4
JournalActa Paediatrica Taiwanica
Issue number1
Publication statusPublished - 2007 Jan

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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