Lurie I W, Korotkova I A, Zaletajev D V, Smirnova L I, Podlechshuk L V, Gurevich D B
Helv Paediatr Acta. 1986 Mar;41(6):509-13.
A new case is presented of partial trisomy 3p in a one-year-old mentally retarded female infant with characteristic craniofacial dysmorphism and rare-faction of the stroma of the iris. The partial trisomy resulted from paternal balanced translocation t(3;6)(p25;p25). A review of the literature revealed that 1. both sexes are equally affected; 2. holoprosencephaly, found in 4 of 45 cases, may be considered the major and most severe anomaly of this syndrome; 3. the life-span of partial trisomy 3p is shorter than generally believed as most patients with severe malformations probably die before karyotype studies are initiated.
本文报告了一例1岁智力发育迟缓女婴的3p部分三体综合征病例，该患儿具有典型的颅面部畸形以及虹膜基质稀疏。该部分三体是由父亲的平衡易位t(3;6)(p25;p25)所致。文献回顾显示：1. 男女受累几率相同；2. 45例中有4例出现前脑无裂畸形，可被视为该综合征主要且最严重的异常表现；3. 3p部分三体的寿命比一般认为的要短，因为大多数严重畸形的患者可能在进行核型研究之前就已死亡。
