Ozdemir M, Yuksel Z, Karaer K, Tekin N, Kucuk H, Erzurumluoglu E, Cilingir O
Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Turkey.
Genet Couns. 2012;23(3):375-82.
Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare events. We present two different cases with unbalanced chromosomal rearrangements both derived from maternal balanced translocations. The first case is a 4 year-old boy with speech delay, dysmorphic facial features (inc. cleft lip/palate), behavioural disturbances and growth retardation, who had partial 8q trisomy and partial 21p monosomy resulting from a maternal t(8;21) reciprocal translocation. The other case is a 2 day-old boy with ventriculomegaly, dysmorphic facial features and heart defects (patent ductus arteriosus and atrial septal defect) who had partial 15q trisomy and partial 9p monosomy resulting from a maternal t(9;15) reciprocal translocation.
涉及8号染色体长臂和15号染色体长臂三体的不平衡易位是极其罕见的事件。我们报告了两例不同的病例，均为源自母亲平衡易位的不平衡染色体重排。第一例是一名4岁男孩，有语言发育迟缓、面部畸形特征（包括唇腭裂）、行为障碍和生长发育迟缓，他因母亲的t(8;21)相互易位导致部分8号染色体长臂三体和部分21号染色体短臂单体。另一例是一名2日龄男婴，有脑室扩大、面部畸形特征和心脏缺陷（动脉导管未闭和房间隔缺损），他因母亲的t(9;15)相互易位导致部分15号染色体长臂三体和部分9号染色体短臂单体。
