Pauli R M, Lebovitz R M, Meyer R D
Clin Genet. 1985 Jun;27(6):555-63. doi: 10.1111/j.1399-0004.1985.tb02040.x.
Three families in which relatives were concordant for upper limb terminal transverse defects are described. These families and previously reported ones with similar recurrence of terminal transverse defects are reviewed and analyzed. It is suggested that, at least in part, the patterns of relatedness for these recurrences more likely are the result of a genetic contribution to the development of this birth defect, rather than such recurrences being solely due to chance.
本文描述了三个家族,其中亲属均出现上肢末端横向缺损。对这些家族以及之前报道的具有类似末端横向缺损复发情况的家族进行了回顾和分析。研究表明,至少部分情况下,这些复发的关联模式更有可能是这种出生缺陷发展过程中存在遗传因素的结果,而非仅仅是偶然导致的复发。