X-linked intellectual disability: unique vulnerability of the male genome.

Stevenson RE; Schwartz CE

首页> 外文期刊>Developmental disabilities research reviews. >X-linked intellectual disability: unique vulnerability of the male genome.

【24h】

X-linked intellectual disability: unique vulnerability of the male genome.

机译：X连锁智力障碍：男性基因组的独特脆弱性。

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

X-linked intellectual disability (XLID) accounts for approximately 16% of males with intellectual disability (ID). This is, in part, related to the fact that males have a single X chromosome. Progress in the clinical and molecular characterization of XLID has outpaced progress in the delineation of ID due to genes on the other 22 chromosomes. Almost half of the estimated 200 XLID genes have been identified and another 20% have been regionally mapped. These advances have had immediate benefits for families, allowing for carrier testing, genetic counseling, prenatal diagnosis, and preimplantation genetic diagnosis. Additionally, the combination of clinical delineation with gene identification and the development of gene panels for screening nonsyndromal XLID has been able to limit unproductive laboratory testing. Most importantly for the patients, some of the gene discoveries have pointed to potential strategies for treatment.

机译：X连锁智障（XLID）约占智障男性（ID）的16％。这部分与男性具有单个X染色体的事实有关。由于其他22条染色体上的基因，XLID的临床和分子表征进展超过了ID描绘的进展。在估计的200个XLID基因中，几乎有一半已被识别，另外20％已被区域定位。这些进步为家庭带来了直接的好处，可以进行携带者检测，遗传咨询，产前诊断和植入前遗传学诊断。此外，将临床描述与基因鉴定相结合以及开发用于筛选非综合征性XLID的基因组的结合已经能够限制实验室的无效检测。对于患者而言，最重要的是，一些基因发现指出了潜在的治疗策略。

著录项

来源
《Developmental disabilities research reviews.》 |2009年第4期|共8页
作者
Stevenson RE; Schwartz CE;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类预防医学、卫生学;
关键词

相似文献

外文文献
中文文献
专利

1. X-linked intellectual disability: unique vulnerability of the male genome. [J] . Stevenson RE, Schwartz CE Developmental disabilities research reviews. . 2009,第4期

机译：X连锁智力障碍：男性基因组的独特脆弱性。
2. Human X-linked Intellectual Disability Factor CUL4B Is Required for Post-meiotic Sperm Development and Male Fertility [J] . Chien-Yu Lin, Chun-Yu Chen, Chih-Hsiang Yu, Scientific reports. . 2016,第1期

机译：人类X连锁智力障碍因子CUL4B是减数分裂后精子发育和男性生育力所必需的
3. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females [J] . E E Palmer, T Stuhlmann, S Weinert Molecular Psychiatry . 2016,第2期

机译：X连锁基因 CLCN4 中的从头和遗传突变与男性和女性的综合征性智力障碍，行为和癫痫发作有关
4. The Use of Lotto Baca in Improving Speech for Children with Intellectual Disability: Single Subject Research Study in Children with Intellectual Disability in Pandita Kindergarten Serang City [C] . Silvi Sundari, Febriani Agung, Wilda Famy, International Conference on Special Education . 2019

机译：乐透培根在提高智力残疾儿童演讲中的使用：帕尔塔幼儿园智能城智力患儿的单一主题研究研究
5. Phenotypes and Variants in Cases Submitted for X-Linked Intellectual Disability (XLID) Gene Panel Testing. [D] . Hill-Harfe, Katherine Leigh. 2014

机译：为X连锁智力障碍（XLID）基因面板测试提交的病例中的表型和变异形式。
6. A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females [O] . S. Dreha-Kulaczewski, V. Kalscheuer, A. Tzschach, 2014

机译：具有X连锁智力障碍的大家族中的新型SLC6A8突变：半合子男性和杂合子女性的临床和质子磁共振波谱数据
7. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females [O] . Palmer, E., Stuhlmann, T., Weinert, S., 2016

机译：X连锁基因CLCN4的从头和遗传突变与男性和女性的综合征智力残疾和行为以及癫痫发作有关。

X-linked intellectual disability: unique vulnerability of the male genome.

摘要

著录项

相似文献

相关主题

期刊订阅