Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism
Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism
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具有 45,X/46,XX/47,XX,18 嵌合体的女孩的特纳表型
DOI：
10.1002/ajmg.a.10197
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发表时间：
2003
影响因子：
2
通讯作者：
C. Ramos
中科院分区：
文献类型：
--
作者：
I. Lorda‐Sánchez;M. Trujillo;P. Gómez;M. R. de Alba;C. González;M. García;C. Ayuso;C. Ramos
我们报告了一例具有特纳综合征表型的女孩，其羊膜细胞培养核型为45，X，而外周血淋巴细胞的细胞遗传学分析显示存在三种不同细胞系的马赛克染色体构成：45，X[5]/46,XX[3]/47，XX,+18[35]。没有观察到18三体的迹象，儿童时期的随访显示精神运动发育正常。利用高多态性微卫星和荧光定量PCR技术对其亲本来源和形成机制进行了研究。18 -三体细胞在18号染色体的不同位点上显示一个父本等位基因和两个母本纯合等位基因，表明母体发生了M - II减数分裂或合子后错误。确定了三体细胞中X‐等位基因的双亲本起源，即父本等位基因保留在45,000个X细胞中。可能的形成机制暗示减数分裂和/或有丝分裂错误进行了讨论。©2003 Wiley‐Liss, Inc。
We report a girl with Turner syndrome phenotype, whose karyotype on amniocyte culture was 45,X, while cytogenetic analysis on peripheral blood lymphocytes showed the presence of a mosaic chromosome constitution with three different cell lines: 45,X[5]/46,XX[3]/47,XX,+18 [35]. No signs of trisomy 18 were observed and a follow up during childhood revealed normal psychomotor development. Parental origin and mechanism of formation were studied using high polymorphic microsatellites and Quantitative Fluorescent PCR. The 18‐trisomic cells showed one paternal allele and two maternal homozygous alleles at different loci of chromosome 18, suggesting a maternal M‐II meiotic or a postzygotic error. A biparental origin of the X‐alleles in the trisomic cells were determined, being the paternal allele retained in the 45,X cells. The possible mechanism of formation implying meiotic and/or mitotic errors is discussed. © 2003 Wiley‐Liss, Inc.