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16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
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.
Afiliación
  • Nascimento LPC; Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Mergener R; Medical Residency Committee, Federal University of Health Sciences of Porto Alegre (UFCSPA)/Brotherhood of the Santa Casa de Misericórdia of Porto Alegre (ISCMPA), Porto Alegre 90050-170, RS, Brazil.
  • Nunes MR; Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Muniz VF; Medical Residency Committee, Federal University of Health Sciences of Porto Alegre (UFCSPA)/Brotherhood of the Santa Casa de Misericórdia of Porto Alegre (ISCMPA), Porto Alegre 90050-170, RS, Brazil.
  • Catao JR; Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Silveira AKBD; Medicine Course, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Dorfman LE; Undergraduate Program in Biomedical Science, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil.
  • Graziadio C; Health School, University of Vale do Rio dos Sinos (Unisinos), São Leopoldo 93022-750, RS, Brazil.
  • Zen PRG; Department of Clinical Medicine, Federal University of Health Sciences of Porto Alegre (UFCSPA)/Brotherhood of the Santa Casa de Misericórdia of Porto Alegre (ISCMPA), Porto Alegre 90050-170, RS, Brazil.
Genes (Basel) ; 14(8)2023 08 03.
Article en En | MEDLINE | ID: mdl-37628634
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 polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Estructuras Cromosómicas / Cabeza Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Estructuras Cromosómicas / Cabeza Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza