X等臂染色体-X综合征[46,X,i(Xq)]。三例报告及表型回顾。
The X isochromosome-X syndrome [46,X,i(Xq)]. Report of three cases with review of the phenotype.
作者信息
Santana J A, Gardner L I, Neu R L
出版信息
Clin Pediatr (Phila). 1977 Nov;16(11):1021-6. doi: 10.1177/000992287701601112.
PMID:913006
Abstract
It is important not to confuse the 46,X,i(Xq) syndrome with the 45,X classical Turner's syndrome. There are profound cytogenetic and clinical differences between the two syndromes, which must be borne in mind in the differential diagnosis of amenorrhea and of infertility.
摘要
重要的是不要将46,X,i(Xq)综合征与45,X经典特纳综合征相混淆。这两种综合征在细胞遗传学和临床方面存在显著差异，在闭经和不孕症的鉴别诊断中必须牢记这些差异。
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