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16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

Genes - 3 Aug 2023

Nascimento Lívia Polisseni Cotta, Mergener Rafaella, Nunes Marcela Rodrigues, Muniz Victória Feitosa, Catao Juliana Rossi, Silveira Ana Kalise Böttcher da, Dorfman Luiza Emy, Graziadio Carla, Zen Paulo Ricardo Gazzola

Abstract excerpt

We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake's Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide...

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PMID: 37628634
DOI: 10.3390/genes14081583
PMCID: PMC10454344

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