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46,XY,del(1)(q32q42)/47,XY,+15/46,XY,del(1)(q32q42),t(1;18)(p12;p11)/46,XY,该核型为国内、外文献未曾报道的新核型。嵌合体是一种极为罕见的异常染色体核型,它的形成可能是染色体不分离,染色体丢失,染色体复制以及在染色体断裂和变位重排的基础上产生的各种染色体数目和结构畸变,不分离或分配异常是发生在受精卵的早期卵裂过程中时,形成的各种染色体数目和结构畸变的嵌合体细胞核型个体[1]。本文为了鉴别此例复杂嵌合体是否为真性嵌合体,回顾性地分析该病例的羊水、脐血以及心腔血的核型结果。
46, XY, del (1) (q32q42) / 47, XY, + 15/46, XY, del (1) (q32q42), t (1; 18) (p12; p11) /46, XY For the domestic and foreign literature has not been reported in the new karyotype. Chimera is a very rare anaplastic chromosome karyotype, which may be caused by the chromosome is not separated, chromosome loss, chromosome duplication and chromosomal disruption and rearrangement based on the number of chromosomes produced and structural distortion, not Isolation or distribution of abnormalities occurs during the early cleavage of the fertilized egg, resulting in the formation of chimeric somatic karyotypes with various numbers of chromosomes and structural aberrations [1]. In order to identify whether the complex chimera in this case is a true chimera, we retrospectively analyzed the karyotype of amniotic fluid, umbilical cord blood and cardiac blood in this case.