Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins.
Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins.
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单绒毛膜异卵双胞胎生殖细胞嵌合的鉴定
DOI：
10.3389/fgene.2021.744890
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发表时间：
2021
影响因子：
3.7
通讯作者：
Sun L
中科院分区：
文献类型：
--
作者：
Chen J;Xu J;Chen ZH;Yin MN;Guo XY;Sun L
单绒毛膜双胞胎通常被认为是单卵的，因为单绒毛膜双卵（MCDZ）双胞胎在自然妊娠中非常罕见。一些研究报告了这种罕见的情况，其中大多数怀孕是通过辅助生殖技术（ART）受孕的。这些报告主要集中在MCDZ双胞胎妊娠和双胞胎的儿童发育;成年后的随访及其对生殖的影响尚未报告。在这个病例研究中，我们报告了一个自然受孕并已达到生殖成熟的异性MCDZ双胞胎的嵌合体病例。我们收集了双胞胎的口腔粘膜，子宫内膜和生殖细胞，并使用单核苷酸多态性（SNP）阵列和液滴数字PCR（ddPCR）评估其嵌合体。SNP阵列显示，他们有4,049个非等位基因共享位点，他们从父母双方遗传了近50%的信息SNP位点，证实他们是双卵双胞胎。我们发现双胞胎女性的外周血染色体核型为46，XX（2）/46，XY（78）。SNP芯片证实，女性双胞胎和男性双胞胎具有相同的血液单倍型。ddPCR结果显示她的血液中存在92.84（± 1.80%）嵌合体。在她的生殖系嵌合体的情况下，双胞胎女性选择了植入前基因检测她的胚泡的非整倍体。幸运的是，患者只有血液嵌合体。一个健康的男孩在怀孕39周时出生。
Monochorionic twins are generally considered to be monozygotic, as monochorionic dizygotic (MCDZ) twins are extremely rare in natural pregnancies. Several studies have reported this rare occurrence, and most of these pregnancies have been conceived by assisted reproductive technology (ART). These reports mostly focused on MCDZ twin pregnancies and the childhood development of the twins; a follow-up into adulthood and the effect on their reproduction has not been reported. In this case study, we report a case of chimerism in opposite-sex MCDZ twins who were naturally conceived and have reached reproductive maturity. We collected oral mucosal, endometrial, and germ cells from the twins and evaluated their chimerism using single-nucleotide polymorphism (SNP) array and droplet digital PCR (ddPCR). The SNP array showed that they had 4,049 non-allele shared loci, and they inherited nearly 50% informative SNP loci from each parent, confirming that they are dizygotic twins. We found that the female twin had a 46, XX (2)/46, XY (78) karyotype in her peripheral blood. The SNP array confirmed that the female twin and male twin had the same blood haplotype. The ddPCR result showed 92.84 (± 1.80%) chimerism in her blood. In case of chimerism in her germline, the female twin chose preimplantation genetic testing for aneuploidy for her blastocysts. Fortunately, the patient only had blood chimerism. A healthy boy was born at 39 weeks of gestation.
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DOI：
10.1002/bdra.23457
发表时间：
2016-04-01
影响因子：
--
作者：
Le Bras, Anne Mayeur;Petit, Francois;Brisset, Sophie
通讯作者：
Brisset, Sophie
影响因子：
7.2
作者：
Assaf, Samer A.;Randolph, Linda M.;Chmait, Ramen H.
通讯作者：
Chmait, Ramen H.
影响因子：
2.7
作者：
Korsun, P.;Bals-Pratsch, M.;Germer, U.
通讯作者：
Germer, U.
影响因子：
0.9
作者：
Smeets, Dominique;van Vugt, John M. G.;Claahsen-van der Grinten, Hedi L.
通讯作者：
Claahsen-van der Grinten, Hedi L.
影响因子：
6.1
作者：
Williams, CA;Wallace, MR;Zori, RT
通讯作者：
Zori, RT