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染色体复杂平衡易位主要是指三条或者三条以上染色体发生平衡易位,是相对罕见的染色体结构畸变。我所在遗传咨询诊断中发现一例染色体复杂平衡易位病例,报道如下。1病例:患者,男,28岁,已婚,他及妻子表型正常,妻子3次不良孕史,均是怀孕50-60天胚胎停止发育而引产,来我所就诊咨询检查。细胞遗传学检查:外周血淋巴细胞培养,按常规方法制备染色体标本,G显带分析。患者染色体核型:46,XY,t(6;8)(q15;p11.3),t(11;12)(q25;q22)(图1)。核型涉及到4条染色体(6号,8号,11号,12号)和4个断点的复杂易位。妻子核型正常:46,XX。
Chromosomal complex balance of translocation mainly refers to three or more chromosomes have a balanced translocation, is relatively rare chromosomal structural aberrations. My genetic counseling diagnosis found in a case of complex chromosomal translocation cases, reported as follows. 1 Case: The patient, male, 28 years old, married, his wife and his wife phenotype normal, his wife three bad pregnancy history, are 50-60 days pregnant embryos stop developing and induction of labor, to my consultation consultation examination. Cytogenetic examination: Peripheral blood lymphocyte culture, chromosomal specimen preparation by conventional methods, G-banding analysis. Patient karyotype: 46, XY, t (6; 8) (q15; p11.3), t (11; 12) (q25; q22) (Figure 1). Karyotype involves four chromosomes (6, 8, 11, 12) and four breakpoints of complex translocation. Karyotype normal wife: 46, XX.