伴有Xq脆性位点及9号染色体倒位的X连锁智力迟钝。
X-linked mental retardation with a fragile site in Xq and an inversion of chromosome no. 9.
作者信息
Howard-Peebles P N
出版信息
Hum Hered. 1982;32(2):139-41. doi: 10.1159/000153275.
PMID:7201453
Abstract
The second black male with X-linked mental retardation and a fragile site at Xq27 was ascertained by screening for macroorchidism. GTG banding revealed the presence of an inv(9)(p13q21). This inversion is thought to be a chance occurrence and is probably of no clinical significance. More cases having a marker Xq and a chromosome abnormality are expected; some of these abnormalities will be clinically significant.
摘要
通过筛查巨睾症确诊了第二例患有X连锁智力障碍且Xq27存在脆性位点的黑人男性。GTG显带显示存在inv(9)(p13q21)。这种倒位被认为是偶然发生的，可能无临床意义。预计会有更多具有标记Xq和染色体异常的病例；其中一些异常将具有临床意义。
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