Verjaal M, De Nef M B
Am J Dis Child. 1978 Jan;132(1):43-5. doi: 10.1001/archpedi.1978.02120260045012.
The case of a patient with a monosomy 3p25, due to a deletion of the distal part of chromosome 3, is presented. To our knowledge this is the first patient described with this anomaly. Severe psychomotor retardation, an asymmetric skull, the facial appearance, and ear anomalies were the most striking features on examination. The parental karyotypes were normal. The localization of the breakpoint, and the possibility of roentgenographic influence in the etiology of this case are discussed.
本文报告了一例因3号染色体远端部分缺失导致3p25单体的患者。据我们所知，这是首例报道的具有这种异常的患者。严重精神运动发育迟缓、不对称颅骨、面部外观和耳部异常是检查中最显著的特征。父母的核型正常。讨论了断点的定位以及X线检查在该病例病因中的影响可能性。
