TY - JOUR
T1 - Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression
AU - Su, Pen Hua
AU - Kuo, Pao Lin
AU - Chen, Suh Jen
AU - Chen, Jia Yuh
AU - Yu, Ju Shan
AU - Liu, Yuh Ling
AU - Kao, I. Wen
PY - 2007/1
Y1 - 2007/1
N2 - 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.
AB - 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.
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M3 - Article
C2 - 19653414
AN - SCOPUS:34547093620
VL - 48
SP - 28
EP - 31
JO - Acta Paediatrica Sinica
JF - Acta Paediatrica Sinica
SN - 1875-9572
IS - 1
ER -