患有脆性X综合征的家族中未受影响的男性携带者
Unaffected carrier males in families with fragile X syndrome.
作者信息
Howard-Peebles P N, Friedman J M
出版信息
Am J Hum Genet. 1985 Sep;37(5):956-64.
Abstract
Males who transmit the fragile X chromosome but are themselves clinically normal have occasionally been observed. We have studied three families segregating the fragile X. In one family, there are three unaffected carrier males, and in each of the other two families, there is one unaffected carrier male. Three of these carrier males were studied cytogenetically, and none exhibited the fra(X)(q27) marker. The occurrence of carrier males and of other unusual genetic features in fragile X families suggest that this condition is not inherited as a standard recessive trait linked to the X chromosome.
摘要
偶尔会观察到携带脆性X染色体但自身临床正常的男性。我们研究了三个分离脆性X的家系。在一个家系中有三名未受影响的携带者男性，在另外两个家系中各有一名未受影响的携带者男性。对其中三名携带者男性进行了细胞遗传学研究，均未发现fra(X)(q27)标记。脆性X家系中携带者男性的出现以及其他不寻常的遗传特征表明，这种情况并非作为与X染色体连锁的标准隐性性状遗传。
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本文引用的文献
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