Conte R A, Pitter J H, Verma R S
Division of Genetics, Long Island College Hospital, SUNY Health Science Center at Brooklyn, NY 11201, USA.
Clin Genet. 1995 Jul;48(1):49-53. doi: 10.1111/j.1399-0004.1995.tb04054.x.
A 1-year-old male infant was found to have a de novo unbalanced translocation, resulting in trisomy for a portion of the short arm of chromosome 3, i.e. 46,XY,der(7)t(3;7) (p24.1;p22). Previous cases with a so-called "trisomy 3p syndrome" were evaluated by GTG banding, while we attempted to characterize the present case by the FISH-technique. The major clinical features included: dysmorphic ears, decreased muscle tone and seizure episodes associated with fever, which are concordant with "trisomy 3p syndrome". The most common malformations of trisomy 3p syndrome are: psychomotor and mental retardation, short neck, hypertelorism/telecanthus and congenital heart defects. Predominantly, the 3p trisomies have been maternally derived and the major mechanism of inheritance is due to a malsegregation of the chromosomes that are involved in a parental balanced translocation. A review of 44 cases from 35 studies revealed that the clinical manifestations have been quite varied, depending upon the amount of 3p2 material in the trisomic state, but interestingly a recognizable pattern of features was obvious in those cases whose cytogenetic findings and clinical histories were known.
一名1岁男婴被发现患有新发的不平衡易位，导致3号染色体短臂的一部分三体化，即46,XY,der(7)t(3;7)(p24.1;p22)。之前所谓“3p三体综合征”的病例通过GTG显带进行评估，而我们试图通过荧光原位杂交（FISH）技术对本病例进行特征描述。主要临床特征包括：耳部畸形、肌张力降低以及与发热相关的癫痫发作，这些与“3p三体综合征”相符。3p三体综合征最常见的畸形有：精神运动和智力发育迟缓、短颈、眼距增宽/内眦间距增宽以及先天性心脏缺陷。主要地，3p三体大多源自母亲，主要遗传机制是参与亲代平衡易位的染色体发生错误分离。对35项研究中的44例病例进行回顾发现，临床表现差异很大，这取决于三体状态下3p2物质的量，但有趣的是，在那些细胞遗传学结果和临床病史已知的病例中，明显存在一种可识别的特征模式。
