9号染色体三体（pter----q1至q3）：作为核型分析辅助依据的表型
Trisomy 9 (pter----q1 to q3): the phenotype as an objective aid to karyotypic interpretation.
作者信息
Preus M, Schinzel A, Aymé S, Kaijser K
出版信息
Clin Genet. 1984 Jul;26(1):52-5. doi: 10.1111/j.1399-0004.1984.tb00788.x.
Abstract
The phenotypic findings of three patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter---q1 to q3). One with an extra, small acrocentric chromosome and another with a trisomy due to an inherited C/G translocation have a phenotype compatible with the trisomy 9 (pter----q1) syndrome. In a third patient reported with 47,XY,?16+, the trisomy 9p probably extends past the q1 region.
摘要
将核型分析结果不确定的3例患者的表型发现与9号染色体三体（pter---q1至q3）患者进行了比较。1例有一条额外的小近端着丝粒染色体，另1例因遗传性C/G易位导致三体，其表型与9号染色体三体（pter----q1）综合征相符。在第3例报告为47,XY,?16+的患者中，9号染色体短臂三体可能延伸至q1区域之外。
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Trisomy 9 (pter----q1 to q3): the phenotype as an objective aid to karyotypic interpretation.9号染色体三体（pter----q1至q3）：作为核型分析辅助依据的表型
Clin Genet. 1984 Jul;26(1):52-5. doi: 10.1111/j.1399-0004.1984.tb00788.x.
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