一种亚端粒易位明显与多次流产有关。
A subtelomeric translocation apparently implied in multiple abortions.
作者信息
Monfort Sandra, Martínez Francisco, Roselló Mónica, Badia Lourdes, Prieto Félix, Orellana Carmen
机构信息
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avd. Campanar 21, Valencia, 46009, Spain.
出版信息
J Assist Reprod Genet. 2006 Feb;23(2):97-101. doi: 10.1007/s10815-006-9033-5. Epub 2006 Apr 5.
PURPOSE
Chromosomal alterations are a major cause of clinically recognized abortions. So cryptic chromosomal rearrangements could be responsible for recurrent miscarriages.
METHODS
The study was performed on 18 clinically normal couples who had four or more spontaneous abortions and whose karyotypes were found to be normal. Fluorescence in situ hybridization with specific probes of subtelomeric regions was used after optimizing the amount of probe.
RESULTS
Only one subtelomeric translocation was detected between 2p and 3p chromosomes, in a female with seven miscarriages.
CONCLUSION
Subtelomeric rearrangements are infrequently related to multiple miscarriages. This kind of studies can be considered specially worthy when a couple have had not only abortions but also offspring with mental and physical anomalies. Thus, possible initial studies should focus on affected children or fetus.
目的
染色体改变是临床诊断流产的主要原因。因此，隐匿性染色体重排可能是反复流产的原因。
方法
对18对临床正常的夫妇进行研究，这些夫妇有4次或更多次自然流产，且其核型正常。在优化探针量后，使用亚端粒区域特异性探针进行荧光原位杂交。
结果
在一名有7次流产史的女性中，仅检测到2号和3号染色体之间的一次亚端粒易位。
结论
亚端粒重排与多次流产的相关性较低。当一对夫妇不仅有流产史，而且其子女有精神和身体异常时，这类研究特别有价值。因此，可能的初步研究应集中在受影响的儿童或胎儿身上。
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