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Article

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.

American journal of medical genetics. Part A - 15 Aug 2008

Dahoun Sophie, Gagos Sarantis, Gagnebin Maryline, Gehrig Corinne, Burgi Carole, Simon Fabienne, Vieux Chantal, Extermann Philippe, Lyle Robert, Morris Michael A, Antonarakis Stylianos E, Béna Frédérique, Blouin Jean-Louis

Abstract excerpt

We report on a monochorionic/diamniotic twin pregnancy discordant for trisomy 21. Amniocentesis (at 13(5/7) weeks) was performed following ultrasound signs of hydrops and cystic hygroma in twin 1 (T1). Prenatal karyotype showed non-mosaic trisomy 21 in T1 (47,XX,+21[7]), and low-grade mosaic trisomy 21 in twin 2 (T2) (47,XX,+21[2]/46,XX[19]). Post mortem examination of fetal skin, kidneys and lungs confirmed...

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PMID: 18627064
DOI: 10.1002/ajmg.a.32431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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