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一名新发9/15易位患者的9号染色体短臂三体

Trisomy 9p in a patient with a de novo 9/15 translocation.

作者信息

Jacobsen P, Hobolth N, Mikkelsen M

出版信息

Clin Genet. 1975 Apr;7(4):317-24. doi: 10.1111/j.1399-0004.1975.tb00335.x.

Abstract

Mental retardation, facial dysmorphism, hypertelorism, antimongoloid eye slants, epicanthus, globular nose, malformed ears, bone abnormalities, one flexion crease on 5th finger, simian crease, and speech difficulties with delayed expressivity were found in a girl with trisomy of the short arm of chromosome 9. The 9p+ syndrome was due to a sporadic translocation of the short arm of chromosome 9 onto the short arm of chromosome 15.

摘要

在一名9号染色体短臂三体的女孩中发现了智力发育迟缓、面部畸形、眼距过宽、反蒙古样眼斜、内眦赘皮、球状鼻、耳部畸形、骨骼异常、第5指单一屈褶、猿线以及语言表达延迟的言语困难。9p+综合征是由于9号染色体短臂向15号染色体短臂的散发性易位所致。

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