Kabuki syndrome in a female with mosaic 45,X/47,XXX and aortic coarctation.

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Title:	Kabuki syndrome in a female with mosaic 45,X/47,XXX and aortic coarctation.
Authors:	陳持平(Chih-Ping Chen);(Shuan-Pei Lin);蔡輔仁(Fuu-Jen Tsai);(Schu-Rern Chern);(Wayseen Wang)
Contributors:	中醫學院中醫學系學士班中醫內科學科
Keywords:	Aortic coarctation;Kabuki syndrome;mosaic 45,X/47,XXX;Turner syndrome
Date:	2008-06
Issue Date:	2009-08-20 17:56:28 (UTC+8)
Abstract:	Objective: To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation. Design: Descriptive case study. Setting: Tertiary medical center. Patient(s): A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance. Intervention(s): None. Main Outcome Measure(s): Cytogenetic analysis. Result(s): The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells]. Conclusion(s): This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities. (Fertil Steril 2008;89:1826.e5–7.
Relation:	FERTILITY AND STERILITY 89(6):1826e5~1826e7
Appears in Collections:	[School of Chinese Medicine] Journal articles

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