一位46XX/47XXX嵌合型母亲的后代中的二倍体/四倍体嵌合现象。
Diploid/tetraploid mosaicism in the offspring of a 46XX/47XXX mosaic mother.
作者信息
Reddy C M, Singh D N, Crump E P
出版信息
J Natl Med Assoc. 1977 Aug;69(8):563-4.
Abstract
A 10½-year-old boy with an IQ of 71, short stature, and isolated growth hormone deficiency was found to have diploid/tetraploid mosaicism. He was born to a 46xx/47xxx mosaic mother. The mother was found to be moderately mentally retarded but showed no other abnormalities. A review of literature pertinent to this case is presented.
摘要
一名10岁半的男孩，智商为71，身材矮小，患有孤立性生长激素缺乏症，被发现存在二倍体/四倍体嵌合体现象。他的母亲是46xx/47xxx嵌合体。母亲被发现有中度智力障碍，但无其他异常。本文对与此病例相关的文献进行了综述。
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本文引用的文献
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Population cytogenetic investigation of newborns in Moscow.莫斯科新生儿的群体细胞遗传学研究。
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XXY son of a possibly XX-XXX mother.
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XXY son of XX-XXX mother.
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Chromosome mosaicism in a population sample.群体样本中的染色体嵌合现象。
Humangenetik. 1975 Sep 10;29(2):155-9. doi: 10.1007/BF00430354.
10
XXYY son of a triple-X mother.一位XXX母亲的XXYY儿子。
Humangenetik. 1975;26(2):159-60. doi: 10.1007/BF00278447.
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