A monozygotic twin pregnancy discordant for acardia and X-inactivation pattern

被引：8

作者：

Masuzaki, H

Miura, K

Yoshimura, S

Yoshiura, K

Ishimaru, T

机构：

[1] Nagasaki Univ, Grad Sch Biomed Sci, Dept Obstet & Gynecol, Nagasaki 852, Japan

[2] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, Japan

来源：

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY | 2004年 / 117卷 / 01期

基金：

日本学术振兴会;

关键词：

acardiac twin; inner cell mass; skewed X-inactivation; monozygotic twins;

D O I：

10.1016/j.ejogrb.2003.12.028

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Monochorionic, diamniotic twins discordant for acardia are reported. A 775 g acardius was dead, generally hydropic and severely malformed, while the other twin with a weight of 1314 g was phenotypically normal. Both twins had a normal 46 XX karyotype. Genotyping at 24 autosomal polymorphic loci revealed that the twins were identical (monozygotic) and ruled out uniparental disomy for chromosome 2. X-inactivation studies showed a skewed pattern in the acardiac twin and a normal random pattern in the co-twin, suggesting that the underdevelopment of the acardiac twin may have reflected the small number of original cells that were separated from the inner cell mass. (C) 2004 Elsevier Ireland Ltd. All rights reserved.

引用

页码：102 / 104

页数：3

共 8 条

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ALLEN RC, 1992, AM J HUM GENET, V51, P1229

[2] Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies [J].