Fertility and sterility · 2007
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Chen Chih-Ping, Lin Shuan-Pei, Tsai Fuu-Jen, Chern Schu-Rern, Wang Wayseen
Аннотация
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.
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.