Kelly T E, Haslam R H, Thomas G H
South Med J. 1979 Nov;72(11):1459-61. doi: 10.1097/00007611-197911000-00032.
A case of trisomy 4q resulting from a balanced paternal translocation is described. Phenotypic similarity of cases with similar break points included hypoplastic nasal alae, short philtrum and pursed lips, and prominent ears. The birth of the proband was preceded by unexplained infertility, oligospermia in the father, and increased fetal wastage. Each of these features is an appropriate indication for cytogenetic analysis. If such an analysis had been done, the unbalanced translocation state in a liveborn, handicapped child could have been anticipated.
本文描述了一例因父亲平衡易位导致的4q三体病例。具有相似断点的病例在表型上具有相似性，包括鼻翼发育不全、人中短、嘴唇噘起和耳朵突出。先证者出生前存在不明原因的不孕、父亲少精子症以及胎儿丢失增加。这些特征中的每一个都是进行细胞遗传学分析的合适指征。如果进行了这样的分析，就有可能预测出活产残疾儿童的不平衡易位状态。
