Forrester Mathias B, Merz Ruth D
Hawaii Birth Defects Program, Honolulu, HI 96817, USA.
Genet Test. 2004 Summer;8(2):204-8. doi: 10.1089/gte.2004.8.204.
Using a birth defects registry, this investigation examined the distribution of translocations by type of translocation, chromosomes involved in the translocation, pregnancy outcome, method of diagnosis, inheritance, and diagnosis of major structural birth defects. A total of 121 cases were identified through a statewide population-based birth defects registry. The translocations were reciprocal in 89 (73.6%) cases, Robertsonian in 32 (26.4%) cases, balanced in 86 (71.1%) cases, and unbalanced in 35 (28.9%) cases. Live births accounted for 76 (88.4%) of balanced translocations and 22 (62.9%) of unbalanced translocations. Diagnosis was made by amniocentesis or chorionic villus sampling in 72 (83.7%) of balanced translocations and 11 (31.4%) of unbalanced translocations. Of cases of known inheritance, the translocation was of maternal origin in 38 (46.3%) cases, paternal origin in 25 (30.5%) cases, and de novo in 19 (23.2%) cases. Major structural birth defects were diagnosed in 17 (19.8%) of balanced translocations and 20 (57.1%) of unbalanced translocations. Translocations were more likely to be reciprocal, balanced, and of maternal origin. Infants and fetuses with unbalanced translocations were less likely to be live births and diagnosed by amniocentesis or chorionic villus sampling and more likely to be diagnosed with major structural birth defects.
本研究利用出生缺陷登记系统，按易位类型、涉及的染色体、妊娠结局、诊断方法、遗传方式以及主要结构出生缺陷的诊断情况，对易位的分布进行了调查。通过一个基于全州人口的出生缺陷登记系统共识别出121例病例。其中，相互易位89例（73.6%），罗伯逊易位32例（26.4%）；平衡易位86例（71.1%），不平衡易位35例（28.9%）。平衡易位的活产儿有76例（88.4%），不平衡易位的活产儿有22例（62.9%）。平衡易位的病例中有72例（83.7%）通过羊膜穿刺术或绒毛取样进行诊断，不平衡易位的病例中有11例（31.4%）通过上述方法诊断。在已知遗传方式的病例中，易位起源于母亲的有38例（46.3%），起源于父亲的有25例（30.5%），新发的有19例（23.2%）。平衡易位的病例中有17例（19.8%）被诊断出主要结构出生缺陷，不平衡易位的病例中有20例（57.1%）被诊断出主要结构出生缺陷。易位更可能是相互的、平衡的且起源于母亲。不平衡易位的婴儿和胎儿活产的可能性较小，通过羊膜穿刺术或绒毛取样进行诊断的可能性较小，而被诊断出主要结构出生缺陷的可能性较大。
