一名智力发育迟缓女孩的X;15易位：X染色体失活模式及对己糖胺酶A和其他基因座的定位尝试
X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
作者信息
Bernstein R, Dawson B, Kohl R, Jenkins T
出版信息
J Med Genet. 1979 Aug;16(4):254-62. doi: 10.1136/jmg.16.4.254.
Abstract
Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.
摘要
对一名智力发育迟缓女孩的细胞遗传学研究显示存在复杂的S;15易位，核型为45,X,-15,+t(X15)。易位的X染色体发生了非随机的部分失活，失活主要局限于X片段，在某些细胞中仅局限于X长臂。基因标记研究未能显示己糖胺酶A基因或所检测的任何其他基因标记存在异常分离。
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