与13号和18号染色体平衡易位相关的先天性肾上腺皮质增生症。
Congenital adrenal hyperplasia associated with a balanced 13--18 translocation.
作者信息
Petersen F, Knudsen F U, Nielsen M D, Mikkelsen M
出版信息
Eur J Pediatr. 1980 May;133(3):283-5. doi: 10.1007/BF00496091.
PMID:7389742
Abstract
A newborn infant was found to have salt-losing adrenal hyperplasia, ambiguous genitalia, and a balanced translocation between 13q and 18p. The simultaneous occurrence of the two defects is probably coincidental.
摘要
一名新生儿被发现患有失盐型肾上腺增生、生殖器模糊以及13号染色体长臂与18号染色体短臂之间的平衡易位。这两种缺陷同时出现可能是巧合。
Zotero 插件