Gorski J L, Kistenmacher M L, Punnett H H, Zackai E H, Emanuel B S
Clinical Genetics Center, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine.
Am J Med Genet. 1988 Feb;29(2):247-61. doi: 10.1002/ajmg.1320290202.
We have determined the empirical reproductive risks for heterozygous carriers of complex chromosome rearrangements (CCRs). CCRs are structural rearrangements involving at least three chromosomes and three or more chromosomal breakpoints. Pregnancy outcome, the frequency and type of chromosomal imbalance in the offspring, and the localization and distribution of chromosome breakpoints were analyzed in 25 CCR families ascertained by the birth of a malformed child or repeated spontaneous abortions. This study included two newly ascertained familial CCRs and a total of 67 informative pregnancies. Analysis of the data, after correction for ascertainment bias, showed that the incidence of spontaneous abortions in CCR families was 48.3%. Approximately one in ten pregnancies and 18.4% of all live births to CCR carriers resulted in phenotypically abnormal offspring. One-half of all CCR carrier liveborn offspring were also CCR carriers. There was a 53.7% incidence of an abnormal pregnancy outcome to CCR carriers. We failed to detect any evidence for a non-random involvement of specific chromosomes in CCRs. However, we did observe a non-random distribution of specific breakpoints at sites 1q25, 4q13, 6q27, 7p14, 9q12, 11p11, 11p15, 12q21, 13q31, and 18q21.
我们已经确定了复杂染色体重排（CCR）杂合携带者的经验性生殖风险。CCR是涉及至少三条染色体和三个或更多染色体断点的结构重排。通过畸形儿出生或反复自然流产确诊的25个CCR家庭中，分析了妊娠结局、后代染色体不平衡的频率和类型，以及染色体断点的定位和分布。本研究包括两个新确诊的家族性CCR，共有67次可提供信息的妊娠。在校正确诊偏倚后对数据进行分析，结果显示CCR家庭中自然流产的发生率为48.3%。CCR携带者每十次妊娠中约有一次，所有活产中有18.4%会生出表型异常的后代。所有CCR携带者活产后代中有一半也是CCR携带者。CCR携带者妊娠结局异常的发生率为53.7%。我们未能发现任何证据表明特定染色体在CCR中存在非随机参与。然而，我们确实观察到特定断点在1q25、4q13、6q27、7p14、9q12、11p11、11p15、12q21、13q31和18q21位点的非随机分布。
