Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review.
Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review.
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两个兄弟姐妹的杂色非整倍性：表型、基因型、CENP-E 分析和文献综述。
DOI：
10.1002/(sici)1096-8628(19980106)75:1
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
A. Brothman
中科院分区：
文献类型：
--
作者：
W. Flejter;B. Issa;B. Sullivan;J. Carey;A. Brothman
对患有轻度小头畸形、生长缺陷和轻度形态发生错误的 2 姐妹进行的细胞遗传学研究证明了多种三体性的独特组合，最常见的是 8 号和 18 号染色体作为唯一三体性或与其他染色体组合。由于兄弟姐妹均没有与 8 三体性或 18 三体性嵌合相关的表型异常，因此三体性可能不会在胚胎发生期间发生，但后来可能是由于有丝分裂不稳定的倾向。为了确定观察到的染色体不稳定性是否可能与着丝粒功能有关，通过着丝粒蛋白 CENP-E 的免疫荧光来表征中期细胞。 CENP-E 抗体的杂交与 8 号或 18 号染色体 α 卫星探针的原位杂交相结合，显示每位患者的正常细胞和非整倍体细胞中都与 8 号和 18 号染色体杂交。这些数据表明每个孩子的染色体都含有功能性和活性的着丝粒。将这 2 个人的临床和细胞遗传学发现与之前报道的其他 7 个个体进行了比较，每个人都有相似的发现。总之，这些研究支持这样的观点：隐性有丝分裂突变体可能是染色体嵌合体和由此产生的临床表型的原因。
Cytogenetic studies of 2 sisters with mild microcephaly, growth deficiency, and mild errors of morphogenesis demonstrated a unique combination of multiple trisomies, most often involving chromosomes 8 and 18 either together as sole trisomies or in combination with other chromosomes. Since neither sib has phenotypic anomalies associated with trisomy 8 or 18 mosaicism, the trisomies likely did not occur during embryogenesis, but later possibly due to a predisposition for mitotic instability. To determine if the observed chromosome instability may be related to centromere function, metaphase cells were characterized by immunofluorescence of the centromere protein, CENP-E. Hybridization of CENP-E antibodies, in combination with in situ hybridization of a chromosome 8 or 18 alpha-satellite probe, showed hybridization to chromosomes 8 and 18 in both normal and aneuploid cells from each patient. These data indicate that the chromosomes in each child contain functional and active centromeres. The clinical and cytogenetic findings in these 2 individuals are compared with 7 other previously reported individuals, each of whom have similar findings. Together, these studies support the notion that a recessive mitotic mutant may be responsible for the chromosomal mosaicism and for the resulting clinical phenotype.
染色体畸变的色素异常和嵌合体：与类似伊藤黑色素减少症的临床特征相关。
DOI：
10.1016/s0022-3476(05)81606-3
发表时间：
1990
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Sybert,VP;Pagon,RA;Donlan,M;Bradley,CM
通讯作者：
Bradley,CM
影响因子：
56.9
作者：
LIAO, H;LI, G;YEN, TJ
通讯作者：
YEN, TJ