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Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report

机译：表型正常的易碎X综合征男孩的母亲的隐性FMR1镶嵌缺失：病例报告

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BackgroundIncreasing number of case reports of mosaic mutations and deletions have better armed clinicians and geneticists with more accurate and focused prenatal diagnoses. Since mosaicism means a significant increase of recurrence risk, detailed parental profiling is essential for risk assessments.

机译：背景技术镶嵌突变和缺失病例报告的数量不断增加，使武装的临床医生和遗传学家有了更好的，更准确，更有针对性的产前诊断。由于镶嵌术意味着复发风险的显着增加，因此详细的父母概况分析对于风险评估至关重要。

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期刊名称 BMC Medical Genetics
作者
Shiyu Luo; Wen Huang; Qiuping Xia; Yan Xia; Qian Du; Lingqian Wu; Ranhui Duan;
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作者单位

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年(卷),期 2014(15),-1
年度 2014
页码 125
总页数 7
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Deletion Fragile X syndrome Mosaic Somatic heterogeneity;

机译：删除;脆性X综合征;马赛克;体细胞异质性;

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专利

1. Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report [J] . Shiyu Luo, Wen Huang, Qiuping Xia, BMC Medical Genetics . 2014,第1期

机译：表型正常的易碎X综合征男孩的母亲的隐性FMR1镶嵌缺失：病例报告
2. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. [J] . Coffee B, Ikeda M, Budimirovic DB, American journal of medical genetics, Part A . 2008,第10期

机译：马赛克的FMR1缺失会导致脆性X综合征，并可能导致分子误诊：一例病例并文献复习。
3. Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening [J] . Feras M. Hantash, Dana G. Goos, David Tsao, Genetics in medicine . 2010,第3期

机译：定性评估正常，中间，突变前，全突变和镶嵌携带者中FMR1（CGG）n三联体重复状态：易碎X综合征携带者和新生儿筛查的意义
4. The relationship of repetitive behavior and sensory behavior to parenting stress in mothers of boys with autism and mothers of boys with fragile X syndrome [D] . Richardson, Lolita Lisa 2010

机译：自闭症男孩和易碎X综合征男孩的重复行为和感觉行为与父母压力的关系
5. Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome [O] . Marsha R. Mailick, Arezoo Movaghar, Jinkuk Hong, 2018

机译：易碎X综合征儿童的马赛克与非马赛克FMR1突变母体的健康状况
6. Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report [O] . Shiyu Luo, Wen Huang, Qiuping Xia, 2014

机译：表型正常的易碎X综合征男孩的母亲的隐性FMR1镶嵌缺失：病例报告

Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report

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