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GENE DOSAGE IN THE ETIOLOGY OF MULTIPLE CONGENITAL ANOMALIES

GENE DOSAGE IN THE ETIOLOGY OF MULTIPLE CONGENITAL ANOMALIES
多种先天性异常病因中的基因剂量
批准号：
6290284
负责人：
LESLIE G BIESECKER
金额：
$0.0万
依托单位：
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/6290284
关键词：
child (0-11) chromosome deletion clinical research comorbidity congenital disorders cytogenetics family genetics gene dosage gene duplication gene expression genetic disorder genetic markers human genetic material tag human subject human tissue pathologic process polymerase chain reaction syndrome

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中文摘要
翻译
我们收集了200多个患有未确诊的多发性先天性畸形综合征的核心家庭(母亲、父亲和孩子)。我们的方法是使用分子技术来检测亚微观复制和缺失。虽然我们已经发现了一些异常，但对标本的分析还不完整。通过微卫星标记的筛选，我们发现了五种显微技术无法检测到的染色体异常。这项研究已于去年结束，以便于完成对当前标本的分析。-临床研究、遗传学、智力障碍、儿科研究--受试者和受试者：仅限访谈、问卷或调查
英文摘要
We have collected over 200 nuclear families (mother, father and Child) with undiagnosed multiple congenital anomaly syndrome. Our approach is to use molecular techniques to detect submicroscopic duplications and deletions. The analysis of the specimens is incomplete although we have already found a number of abnormalities.By screening with microsatellite markers, we have found five chromosomal aberrations that were not detected by microscopic techniques. The study was closed to further accrual last year to allow completion of the analysis of the current specimens. - clinical research, genetics, mental retardation, pediatric research - Human Subjects & Human Subjects: Interview, Questionaires, or Surveys Only
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GENE DOSAGE IN THE ETIOLOGY OF MULTIPLE CONGENITAL ANOMALIES
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