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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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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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