9号染色体三体嵌合体
Trisomy 9 mosaicism.
作者信息
Lewandowski R C, Yunis J J
出版信息
Clin Genet. 1977 Apr;11(4):306-10. doi: 10.1111/j.1399-0004.1977.tb01317.x.
Abstract
The first live-born female with trisomy 9 mosaicism is reported. This patient, like four others in the literature, has a characteristic face with narrowed temples, enophthalmus, large nose and pouched cheeks, as well as skeletal abnormalities of the extremities, including hip dislocation, limited joint mobility and bone hypoplasia.
摘要
据报道，首例9号染色体三体嵌合体活产女性诞生。该患者与文献中其他四名患者一样，面部特征明显，颞部狭窄、眼球内陷、鼻子大且脸颊有赘肉，同时四肢存在骨骼异常，包括髋关节脱位、关节活动受限和骨骼发育不全。
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