Kousseff B G, Nichols P, Essig Y P, Miller K, Weiss A, Tedesco T A
Am J Med Genet. 1987 Apr;26(4):771-82. doi: 10.1002/ajmg.1320260403.
Congenital complex chromosome rearrangements (CCR) compatible with life are rare in man. Thus patients with CCR usually present considerable diagnostic difficulties both clinically and cytogenetically. We studied a 12-year-old mentally retarded male with minor congenital anomalies as described below and his first-degree relatives. The propositus had an unbalanced karyotype with eight break points and seven derivative chromosomes; two deletions, del(6) (q25----qter) and del(14) (q31----qter), and four translocations, t(2;11), t(5;15), t(6;11), t(6;20) were present. Parental chromosomes were normal; however, the mother had a few metaphases with abnormal chromosomes suggestive of chromosome instability. These findings and a review of reported patients with CCR are presented with regard to speculations about etiology, pathogenesis, phenotypic expression, and prognosis. Physicians should be aware of CCR and broader indications for cytogenetic studies appear warranted in view of these data.
与生命相容的先天性复杂染色体重排（CCR）在人类中很罕见。因此，CCR患者通常在临床和细胞遗传学方面都存在相当大的诊断困难。我们研究了一名12岁智力发育迟缓的男性，他有如下所述的轻微先天性异常，以及他的一级亲属。先证者的核型不平衡，有8个断点和7条衍生染色体；存在两个缺失，即del(6)(q25----qter)和del(14)(q31----qter)，以及四个易位，即t(2;11)、t(5;15)、t(6;11)、t(6;20)。父母的染色体正常；然而，母亲有一些中期染色体异常，提示染色体不稳定。结合对已报道的CCR患者的回顾，我们针对病因、发病机制、表型表达和预后的推测给出了这些发现。鉴于这些数据，医生应该了解CCR，并且细胞遗传学研究的适应证似乎应该更广泛。
