The Journal of molecular diagnostics : JMDHumansMosaicismFemaleMaleChild
Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay.
Yanca G Oliveira, Marilia M Montenegro, Vanessa T Almeida, Eder A Moura, Amom M Nascimento, Gleyson Francisco da Silva Carvalho, Evelin A Zanardo, Samar N Chehimi, Beatriz M Wolff, Lucas L Vieira, Mariana R Costa Siemann, Rafaela da Silva Mendes, Lissandro de Sousa Rolim, Karina M Nascimento, Chong Ae Kim
Published: 202510.1016/j.jmoldx.2025.09.002
Abstract
Genomic mosaicism is underdiagnosed owing to its variable tissue distribution and the limitations of single-tissue testing. Cytogenomic techniques applied across multiple tissues can uncover clinically actionable variants and clarify genotype-phenoty…
Preview only. Read the full abstract at the source