A mildly retarded woman with 46,XX/47,XX, + 18 mosaicism.
作者信息
Bensen J T, Steele M W
出版信息
Am J Med Genet. 1985 Oct;22(2):343-6. doi: 10.1002/ajmg.1320220218.
PMID:4050867
Abstract
We describe a mildly retarded woman with trisomy 18 mosaicism. The phenotype did not suggest trisomy 18, but the mild mental retardation, asymmetric face with bushy eyebrows and thick lips, short stature, and older maternal age raised the suspicion of a chromosomal cause for her condition.
摘要
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