使用传统细胞遗传学和荧光原位杂交（FISH）方法对罕见的5号与21号染色体常染色体易位嵌合体进行特征分析。
Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods.
作者信息
Omori Sarabi Sadaf, Karimzad Hagh Javad, Behrend Claudia, Mohseni Seyed Behrooz, Ansari Dezfouli Mitra, Rashidi Seyed Khalil, Omrani Mir Davood
机构信息
Paresh Pathobiology and Genetics Laboratory, Tehran, Iran;
Praxisgem für Medizinische Genetik, Düsseldorf, Germany.
出版信息
Iran Biomed J. 2020 Jan;24(1):60-3. doi: 10.29252/ibj.24.1.60. Epub 2019 Jul 14.
BACKGROUND
Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal.
CASE REPORT
We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a two-year-old affected girl, characterized by mental retardation, dystrophia, hearing impartment, and dysphagia.
METHODS AND RESULTS
Cytogenetic investigation revealed a low mosaic unbalanced translocation of 46,XX,t(5;21)/ 46,XX, which was confirmed by fluorescence in situ hybridization analysis. Studying 200 metaphases and interphases of peripheral blood sample revealed 70% partial monosomy of 21q22 and partial trisomy of 5q(35.3) and 30% of normal pattern.
CONCLUSION
In rare cases such as this study, parents with balanced translocation with no phenotypes may lead to a mosaic unbalanced translocation with abnormal phenotypes in offspring, which underscores the need for prenatal karyotyping and genetics counseling.
背景
正常细胞群体与不平衡常染色体重排的嵌合体很少见。如果异常细胞系在体细胞中占比小，其表型预计正常。
病例报告
我们报告一名29岁女性，她与一名两岁患病女孩均有46,XX,t(5;21)平衡染色体易位，患儿表现为智力发育迟缓、营养不良、听力障碍和吞咽困难。
方法与结果
细胞遗传学检查显示为低比例嵌合不平衡易位46,XX,t(5;21)/46,XX，荧光原位杂交分析证实了这一结果。研究外周血样本的200个中期和间期细胞，发现70%为21q22部分单体和5q(35.3)部分三体，30%为正常核型。
结论
在本研究这样的罕见病例中，表型正常的平衡易位父母可能导致子代出现具有异常表型的嵌合不平衡易位，这凸显了产前核型分析和遗传咨询的必要性。
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