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

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

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 ex...

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Bibliographic Details
Main Authors: Lívia Polisseni Cotta Nascimento, Rafaella Mergener, Marcela Rodrigues Nunes, Victória Feitosa Muniz, Juliana Rossi Catao, Ana Kalise Böttcher da Silveira, Luiza Emy Dorfman, Carla Graziadio, Paulo Ricardo Gazzola Zen
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
16p11.2 microduplication syndrome
Blake’s pouch cyst
Mega cisterna magna
Online Access:https://www.mdpi.com/2073-4425/14/8/1583

Internet

https://www.mdpi.com/2073-4425/14/8/1583

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