article · Fetal and Pediatric Pathology
BACKGROUND: Mosaic trisomy 2 is the detection of two or more cells with the additional chromosome 2 distributed over two or more independent cultures. METHODS: We present 2 new cases of mosaic trisomy 2 detected at amniocentesis with previously unreported clinical features and we review the literature of the clinical manifestations of this uncommon aneuploidy. RESULTS: Cytogenetic analysis of the amniotic fluid culture showed mosaic trisomy 2 (47,XY,+2[9]; 46,XY[19]) (32%) for case 1, and (47,XY,+2[13]; 46,XY[21]) (38%) for case 2 in two independent flask cultures. Our second case presented a new clinical finding non described previously in mosaic trisomy 2 which is occipital schizencephaly associated with hydrocephalus. CONCLUSION: Two new cases of mosaic trisomy 2 were detected at amniocentesis with previously unreported clinical features. Prenatal diagnosis of chromosomal mosaic trisomy 2 continues to create a dilemma in genetic counseling because of limited data and variable outcomes.
This page summarises published work. The authoritative version sits with the publisher.
DOI: 10.1080/15513815.2025.2534033
Is something wrong with this record? Report it or request removal.
Discussion
Have you built on this work, tried to replicate it, or seen it applied in practice? Share what you know. Verified researchers and MARATTO™ domain experts can open a discussion, and any member can reply. Contributions are reviewed before they appear.
No discussion yet. Open the first thread.
New to MARATTO™? Create a free account.
