The Burner syndrome-associated neurocognitive phenotype maps to distal Xp
The Burner syndrome-associated neurocognitive phenotype maps to distal Xp
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DOI：
10.1086/303039
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发表时间：
2000-09-01
影响因子：
9.8
通讯作者：
Zinn, AR
中科院分区：
文献类型：
--
作者：
Ross, JL;Roeltgen, D;Zinn, AR
特纳综合征(TS)与一种特征性的神经认知特征有关，包括视觉空间/知觉能力受损。我们使用分子方法来确定X染色体的一个关键区域，该区域是TS神经认知方面的关键区域。34名女性的XP基因部分缺失通过FISH或多态标记杂合性缺失来定位。判别函数分析最佳地识别了TS相关的神经认知表型。只有丢失类似于10Mb远端XP的受试者才表现出指定的神经认知特征。表型表现为父系或母系遗传缺失，X失活完全或不完全倾斜。信息性缺失的精细图谱暗示了
Turner syndrome (TS) is associated with a characteristic neurocognitive profile that includes impaired visuospatial/perceptual abilities. We used a molecular approach to identify a critical region of the X chromosome for neurocognitive aspects of TS. Partial deletions of Xp in 34 females were mapped by FISH or by loss of heterozygosity of polymorphic markers. Discriminant function analysis optimally identified the TS-associated neurocognitive phenotype. Only subjects missing similar to 10 Mb of distal Xp manifested the specified neurocognitive profile. The phenotype was seen with either paternally or maternally inherited deletions and with either complete or incomplete skewing of X inactivation. Fine mapping of informative deletions implicated a critical region of