一名45,X/46,X dic(Yq)的青春期男性，无生殖器模糊。对其表型特征的批判性研究
[A 45 X/46 X dic (Yq) puberal male without genital ambiguity. Critical study of the peculiarities of his phenotype].
作者信息
Hermier M, Philippe N, François R
出版信息
Arch Fr Pediatr. 1979 Feb;36(2):162-72.
PMID:444011
Abstract
A boy with a chromosomal mosaic 45 X/46 X dic Yq is described. The unusual features were a Turner phenotype with normal genitalia and he was in puberty. It is apparent that it is not possible to blame alterations in the Y chromosome when this mosaic is associated with ambiguous genitalia or the stigmata of Turner's syndrome.
摘要
本文描述了一名患有染色体嵌合体45,X/46,X dic Yq的男孩。其不寻常之处在于具有特纳综合征的表型，但生殖器正常，且已进入青春期。显然，当这种嵌合体与生殖器模糊或特纳综合征的体征相关联时，不能将其归咎于Y染色体的改变。
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