[体外受精双合子双胞胎中的血细胞嵌合现象]

[Blood cell chimerism in dizygotic twins conceived by in vitro fertilization].

作者信息

Martos-Moreno G Á, Campos C, Flores R, Yturriaga R, Pérez-Jurado L A, Argente J

机构信息

Servicios de Pediatría y Endocrinología, Instituto de Investigación La Princesa, Hospital Infantil Universitario Niño Jesús, Madrid, España; Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, España; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, España.

出版信息

An Pediatr (Barc). 2013 Oct;79(4):248-52. doi: 10.1016/j.anpedi.2013.04.005. Epub 2013 May 30.

DOI:10.1016/j.anpedi.2013.04.005

PMID:23726690

Abstract

We present a case of hematopoietic chimerism in dizygotic twins (male and female) conceived by in vitro fertilization (IVF). At 8 years of age a blood karyotype was performed on the female due to the presence of clitoromegaly. Two different lines: 46,XX (53%) and 46,XY (47%) were found. FISH studies confirmed the presence of the SRY gene in 46,XY cells. Karyotyping of the male showed two different lines: 46,XY (58%) and 46,XX (42%). SRY gene was present in 46,XY cells. Microsatellite analyses of blood DNA revealed tetra-allelic contribution at some autosomal loci with similar proportions of maternal and paternal alleles and X/Y chromosome dose. FISH in buccal mucous showed that all cells from the female were 46,XX and those from the male 46,XY. The gonadal karyotype in the female was 46,XX without SRY. Hence, we report 46,XX/46,XY chimerism in dizygotic twins. Blood chimerism was confirmed by performing FISH on the buccal cells of the patients.

摘要

我们报告一例通过体外受精（IVF）受孕的异卵双胞胎（一男一女）发生造血嵌合的病例。8岁时，因阴蒂肥大对女性进行了血液核型分析。发现了两种不同的细胞系：46,XX（53%）和46,XY（47%）。荧光原位杂交（FISH）研究证实46,XY细胞中存在SRY基因。男性的核型分析显示两种不同的细胞系：46,XY（58%）和46,XX（42%）。46,XY细胞中存在SRY基因。对血液DNA进行微卫星分析发现，在一些常染色体位点存在四等位基因贡献，母本和父本等位基因以及X/Y染色体剂量比例相似。颊黏膜的FISH显示，女性的所有细胞均为46,XX，男性的所有细胞均为46,XY。女性的性腺核型为46,XX，无SRY基因。因此，我们报告了异卵双胞胎中的46,XX/46,XY嵌合现象。通过对患者颊细胞进行FISH证实了血液嵌合。