VACTERL 联合征患者的遗传证据。
Evidence for inheritance in patients with VACTERL association.
机构信息
Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD 20892, USA.
出版信息
Hum Genet. 2010 Jun;127(6):731-3. doi: 10.1007/s00439-010-0814-7. Epub 2010 Apr 6.
Abstract
VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.
摘要
VACTERL/VATER 联合征通常为散发性疾病。我们对 78 名 VACTERL 联合征先证者的遗传情况进行了数据分析，并表明 9%的先证者存在一级亲属至少具有 VACTERL 联合征的一个特征。一级亲属中出现特征的患病率明显高于一般人群，这对受影响家庭的咨询和可能病因的研究都具有重要意义。
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