P634: Clinical spectrum and cytogenetic findings in patients with mosaic trisomy 8: A 20-year study

Genetics in Medicine Open 2026 Open access

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Authors: Mutaz Amin, Suneeta Madan‐Khetarpal, Ann Johansson, Audrey Woerner, MD Joshua Owens, Ravella Raker, Svetlana A. Yatsenko, Marwa Daghsni, Mahmoud Aarabi
DOI: 10.1016/j.gimo.2026.104124
Cited by: 0

Abstract

Trisomy 8 is a rare chromosomal aneuploidy that may lead to livebirth in mosaic form. The incidence of mosaic trisomy 8 remains unknown and its clinical presentations are highly variable, including intellectual disability, skeletal and craniofacial anomalies, renal or cardiac malformations, and deep palmar or plantar furrows. Mosaic trisomy 8 has also been associated with hematologic malignancies, suggesting a potential predisposition to myeloid neoplasia. Here, we describe eight independent cases of mosaic trisomy 8 identified at the UPMC Cytogenetics Laboratories during 2005-2025.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Acute Myeloid Leukemia Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104124–104124
Publication date
1 January 2026
Language
EN