Matton M, De Bie S, Anseeuw A
J Hand Surg Am. 1981 Nov;6(6):537-42. doi: 10.1016/s0363-5023(81)80124-4.
A familial dermatoglyphic study of 25 syndactyly type I patients and 53 unaffected first-degree relatives showed a significant increase of complex fingertip patterns in the patients and in their relatives as well. An embryonic link between the formation of complex fingertip patterns and syndactyly type I is postulated. The study contributes new data on the hereditary transmission of syndactyly type I which cannot be used for individual genetic counseling. Calculation of the recurrence risk is difficult in view of the reduced penetrance of the gene.
对25例Ⅰ型并指患者和53名未患病的一级亲属进行的一项家族皮纹学研究表明,患者及其亲属的复杂指尖纹型均显著增加。推测复杂指尖纹型的形成与Ⅰ型并指之间存在胚胎学联系。该研究为Ⅰ型并指的遗传传递提供了新的数据,但这些数据不能用于个体遗传咨询。鉴于该基因的外显率降低,复发风险的计算很困难。