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정상적인 부모에서 산전초음파로 진단된 Holt-Oram 증후군 1 예
이정건 ( Jung Gun Lee ),최안나 ( An Na Choi ),지은경 ( Eun Gyung Jee ),권태희 ( Tae Hee Gwon ),이용희 ( Yong Hee Lee ),이숙환 ( Sook Hwan Lee ),조주연 ( Joo Yeon Jo ),정창조 ( Chang Jo Jung ),계정웅 ( Jung Woong Gye ),이정노 ( Jun 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.11
Holt-Oram Syndrome is an autosomal dominant disorder characterized by the association of upper-limb abnormalities and congenital heart disease. A woman with no family history of genetic disease underwent antenatal sonography at 27 weeks' menstrual age to screen for fetal anomalies. Ultrasonography revealed abnormalities in the upper limbs. The limb abnormalities included abscence of bilateral thumbs and radius: the left humus was short. Pregnancy termination was performed. The postnatal chromosomal analysis revealed a normal 46XX karyotype and the autopsy finding confirmed the Holt-Oram syndrome. We report a case of Holt-Oram Syndrome in fetus with unaffected parents with brief of the literatures.