产前诊断中不稳定的近端着丝粒短臂：无14号染色体多态性，但为17号染色体短臂三体。
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p.
作者信息
De Pater J M, Van Tintelen J P, Stigter R, Brouwers H A, Scheres J M
机构信息
University Medical Center, Department of Medical Genetics, Utrecht, The Netherlands.
出版信息
Genet Couns. 2000;11(3):241-7.
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p: We report on a girl with multiple congenital abnormalities and a prenatally diagnosed 46,XX,14p+ de novo karyotype. Fluorescence in situ hybridization (FISH) demonstrated that the extra material on the short arm of chromosome 14 was not just a polymorphism, but that it originated from chromosome 17. The phenotypic findings of this patient with pure trisomy 17p are compared with those of ten previously published cases.
产前诊断中不稳定的近端着丝粒短臂
无14号染色体多态性，但为17p三体：我们报告了一名患有多种先天性异常且产前诊断为46,XX,14p+ 新生核型的女孩。荧光原位杂交（FISH）显示，14号染色体短臂上的额外物质并非只是一种多态性，而是源自17号染色体。将该单纯17p三体患者的表型发现与之前发表的10例病例进行了比较。
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