单绒毛膜双羊膜性的外生殖器不同型别双胎之一为 45,X/46,XY 嵌合体。

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism.

机构信息

Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.

Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo, Japan.

出版信息

Mol Genet Genomic Med. 2020 Sep;8(9):e1382. doi: 10.1002/mgg3.1382. Epub 2020 Jun 25.

DOI:10.1002/mgg3.1382

PMID:32583967

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7503087/

Abstract

BACKGROUND

Monozygotic twins with 45,X/46,XY mosaicism, discordant for phenotypic sex, are extremely rare.

METHODS

This report describes the clinical findings of a rare case of 45,X/46,XY mosaicism in monozygotic twins with different external genitalia. Single nucleotide polymorphism (SNP) array analysis, performed by collecting DNA from each umbilical cord, showed identical SNPs in the autosomal chromosomes of both fetuses.

RESULTS

Chorionic villus sampling of a 37-year-old primigravida carrying monozygotic twins revealed a 45,X/46,XY karyotype. Autopsy of the aborted fetuses revealed a penis and testes on one fetus and a vagina, uterus, and ovaries in the other fetus--which also had severe cystic hygroma. Cell counting using fluorescence in situ hybridization with XY probes (XY-FISH) showed 20% and 80% abundance of 45,X cells in the internal genitalia, liver, heart, lung, adrenal gland, bone marrow, and spine of the male and female fetuses, respectively.

CONCLUSION

These results indicated that the fetuses were genetically monozygotic twins and their different degrees of mosaicism may have resulted in different genital phenotypes.

摘要

背景

表型性别不一致的同卵双胞胎中出现 45,X/46,XY 嵌合体极为罕见。

方法

本报告描述了一例罕见的同卵双胞胎中 45,X/46,XY 嵌合体的临床发现，这对双胞胎具有不同的外生殖器。通过从每个脐带上采集 DNA 进行单核苷酸多态性 (SNP) 阵列分析，发现两个胎儿的常染色体上的 SNP 完全相同。

结果

对一名怀有同卵双胞胎的 37 岁初产妇进行绒毛膜绒毛取样，发现核型为 45,X/46,XY。对流产胎儿进行尸检发现，一个胎儿有阴茎和睾丸，另一个胎儿有阴道、子宫和卵巢，且后者还伴有严重的囊状水瘤。使用 XY 探针的荧光原位杂交 (XY-FISH) 进行细胞计数显示，男性和女性胎儿的内生殖器、肝脏、心脏、肺、肾上腺、骨髓和脊柱中的 45,X 细胞丰度分别为 20%和 80%。