Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.
Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.
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DOI：
10.1136/jmg.2010.079343
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发表时间：
2010-11
影响因子：
4
通讯作者：
Ogata T
中科院分区：
文献类型：
--
作者：
Yamazawa K;Nakabayashi K;Kagami M;Sato T;Saitoh S;Horikawa R;Hizuka N;Ogata T
我们报告一位34岁的日本女性，具有银-罗素综合征（SRS）样表型和嵌合型特纳综合征核型（45，X/46，XX）。包括常染色体上17个差异甲基化区域（DMR）的甲基化分析和X染色体上的XIST-DMR以及96个常染色体基因座和30个X染色体基因座的全基因组微卫星分析的分子研究揭示，46，XX细胞谱系对于所有染色体（upid（AC）mat）伴随有母体单亲等二体性，而45，X细胞谱系与双亲来源的常染色体和母系来源的X染色体有关。46，XX upid（AC）mat细胞的频率计算为白细胞中84%，唾液细胞中56%，颊上皮细胞中18%。结果表明，孤雌激活发生在缺少性染色体的精子受精时，导致通过含有雌性原核的一个卵裂球的内复制产生upid（AC）mat 46，XX细胞谱系和通过雄性和雌性原核的结合产生45，X细胞谱系。总体（表型）遗传畸变的程度可能超过了SRS表型发生的阈值水平，但未超过其他印迹疾病或隐性孟德尔疾病发生的阈值水平。
We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromosome and genome-wide microsatellite analysis for 96 autosomal loci and 30 X chromosomal loci revealed that the 46,XX cell lineage was accompanied by maternal uniparental isodisomy for all chromosomes (upid(AC)mat), whereas the 45,X cell lineage was associated with biparentally derived autosomes and a maternally derived X chromosome. The frequency of the 46,XX upid(AC)mat cells was calculated as 84% in leukocytes, 56% in salivary cells, and 18% in buccal epithelial cells. The results imply that a parthenogenetic activation took place around the time of fertilisation of a sperm missing a sex chromosome, resulting in the generation of the upid(AC)mat 46,XX cell lineage by endoreplication of one blastomere containing a female pronucleus and the 45,X cell lineage by union of male and female pronuclei. It is likely that the extent of overall (epi)genetic aberrations exceeded the threshold level for the development of SRS phenotype, but not for the occurrence of other imprinting disorders or recessive Mendelian disorders.
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影响因子：
3.5
作者：
Ogawa, Hidehiko;Wu, Qiong;Kono, Tomohiro
通讯作者：
Kono, Tomohiro
影响因子：
2
作者：
Horike, Shin-Ichi;Ferreira, Jose Carlos P.;Weksberg, Rosanna
通讯作者：
Weksberg, Rosanna
影响因子：
2
作者：
Wilson, Meredith;Peters, Gregory;Algar, Elizabeth
通讯作者：
Algar, Elizabeth
影响因子：
14.9
作者：
通讯作者：
--
影响因子：
64.5
作者：
MCGRATH, J;SOLTER, D
通讯作者：
SOLTER, D