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脐疝(胎儿脐疝)的发生率通常是新生儿的1/5 000。在这种复杂的出生缺陷致病原因中遗传成分的作用尚没有查明,同胞复发的经验风险也不明确。因此本文对此进行了遗传学分析。资料取自苏联医学科学院畸形研究中心从1970～1984年诊察的302例胎儿和新生儿脐疝。所有病例可分为单纯脐疝(138例)和多发性出生缺陷(164例)两类。对155个先证者的家庭进行了遗传学研究,分析了四代家谱。在多发性出生缺陷或智力发育不全时对先证者采用细胞遗传学方法进行分析。按类似方法调查152个家庭中健康子女作为对照。
The incidence of umbilical hernia (fetal umbilical hernia) is usually 1/5 000 newborns. The role of genetic components in the pathogenesis of this complex birth defect has not been identified and the empirical risk of sibling relapse is not clear. Therefore, this article conducted a genetic analysis. Data were obtained from 302 fetal and neonatal umbilical hernia examined from 1970 to 1984 by the Center for Deformity Studies of the Soviet Academy of Medical Sciences. All cases can be divided into simple umbilical hernia (138 cases) and multiple birth defects (164 cases) two categories. The family of 155 probands was genetically studied and four generations of pedigree were analyzed. In multiple birth defects or mental retardation of probands using cytogenetic analysis. A similar method was used to investigate 152 healthy children in the family as controls.