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

Abstract

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.

• Authors: Hideaki Masuzaki, Kiyonori Miura, Shuichiro Yoshimura, Ko-Ichiro Yoshiura, Tadayuki Ishimaru
• Journal: European journal of obstetrics, gynecology, and reproductive biology (Eur J Obstet Gynecol Reprod Biol) Vol. 117 Issue 1 Pg. 102-4 (Nov 10 2004) ISSN: 0301-2115 [Print] Ireland
• PMID: 15474253 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Chromosome Aberrations
• Diseases in Twins (genetics)
• Dosage Compensation, Genetic
• Female
• Heart Defects, Congenital (genetics)
• Humans
• Karyotyping
• Pregnancy
• Twins, Monozygotic (genetics)