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Multi-tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report.

ABSTRACT: Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines. The percentage of mosaicism in different tissues can impact the presence of clinical findings and hinder cytogenetic diagnosis. We report a case of mosaicism for trisomy 21 diagnosed after multi-tissue cytogenetic analysis of peripheral blood and buccal mucosa, associated with significant intellectual disability, dysmorphic facial features, congenital heart defects, macropenis, and imperforate anus.

SUBMITTER: Moncada Arita WA

PROVIDER: S-EPMC8991758 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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Multi-tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report.

Moncada Arita Wilberg A WA Perdomo Domínguez Eduardo Smelin ES Rivera Caballero Astrid Yohaly AY Espinoza-Moreno Nelson A NA Zavala Galeano Mauricio E ME DuPont Barbara R BR Ramos-Zaldívar Héctor M HM

Clinical case reports 20220408 4

Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines. The percentage of mosaicism in different tissues can impact the presence of clinical findings and hinder cytogenetic diagnosis. We report a case of mosaicism for trisomy 21 diagnosed after multi-tissue cytogenetic analysis of peripheral blood and buccal mucosa, associated with significant intellectual disability, dysm ...[more]

PMID: 35425598

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