脆性X综合征的一种变异型。
A variant of the fra(X) syndrome.
作者信息
Bühler E M, Hadziselimovic F, Pira U
出版信息
Hum Genet. 1982;61(3):273-5. doi: 10.1007/BF00296460.
PMID:6890944
Abstract
A decondensed site at band q26 of the X chromosome was found in a male baby with growth and developmental retardation and a dysmorphic syndrome, as well as in his pheno-typically normal mother, without using any special culture conditions.
摘要
在一名患有生长发育迟缓及畸形综合征的男婴及其表型正常的母亲身上，未采用任何特殊培养条件，就发现了X染色体q26带处的一个解凝缩位点。
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