不一致的单卵双胎妊娠:1例无心畸形伴X染色体失活

• 作 者: Masuzaki H.a K. Yoshimura S. 石磊
• 机 构: Dept. of Obstetrics and Gynecology, Nagasaki University, Grad. Sch. Biomed. Sci., S., Nagasaki, Japa
• 出 处: 世界核心医学期刊文摘(妇产科学分册)
• 发表日期: 2005年03期
• 关键词: 无心畸形 双胎妊娠 单卵 失活 染色体 胎儿 双胎 单卵双胎 畸形胎儿 单绒毛膜

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 inactiva tion 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.

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 inactiation study showed a skewed pattern in the acardiac twin and a normal random pattern in the co twin, suggesting that the under development of the acardiac twin may have reflected the small number of original cells that were separated from the inner cell mass.