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Review
. 2023 Aug 3;14(8):1583.
doi: 10.3390/genes14081583.

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

Lívia Polisseni Cotta Nascimento  1   2 , Rafaella Mergener  1 , Marcela Rodrigues Nunes  2 , Victória Feitosa Muniz  1 , Juliana Rossi Catao  3 , Ana Kalise Böttcher da Silveira  4 , Luiza Emy Dorfman  5 , Carla Graziadio  6 , Paulo Ricardo Gazzola Zen  1   6
Affiliations
Review

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

Lívia Polisseni Cotta Nascimento et al. Genes (Basel). .

Abstract

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.

Keywords: 16p11.2 microduplication syndrome; Blake’s pouch cyst; Mega cisterna magna.

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Conflict of interest statement

The authors have no conflict of interest to disclose.

Figures

Figure 1
Figure 1
Patient’s dysmorphism at 1 year and 8 months old: brachycephaly, bitemporal narrowing, epicanthal folds, down slanting palpebral fissures and hypertelorism. Shallow nasal bridge, bulbous nose tip, low implantation of ears, overfolded helix and webbed neck.
Figure 2
Figure 2
SNP array analysis in humans (hg38). Data from GSA of chromosome 16 showing the 604.231 base pairs (29584162_30188392) on the 11.2 band of its short arm.
Figure 3
Figure 3
Patient’s timeline from delivery to the last follow up. The yellow arrows indicate the events from the first year of patients’ lives while the purple arrows refer to his second year.
Figure 4
Figure 4
Three-dimensional illustration highlighting cranial morphology and dysmorphias. The low implantation of the ears and brachycephaly can be easily visualized.
Figure 5
Figure 5
Three-dimensional illustration highlighting the head (transparent) and encephalic morphology. It is possible to notice the brachycephaly causing flattening of the occipital lobe.
Figure 6
Figure 6
QR code to access the 3D model.
See this image and copyright information in PMC

References

    1. Hamosh A. Chromosome 16p11.2 Duplication Syndrome. OMIM. Jan, 2020. [(accessed on 1 June 2023)]. Available online: https://www.omim.org/
    1. Proximal 16p11.2 Microduplication Syndrome. Orphanet, ORPHA. 370079. Jul, 2023. [(accessed on 22 July 2023)]. Available online: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370079.
    1. Rein B., Yan Z. 16p11.2 Copy Number Variations and Neurodevelopmental Disorders. Trends Neurosci. 2020;43:886–901. doi: 10.1016/j.tins.2020.09.001. - DOI - PMC - PubMed
    1. Levkova M., Stoyanova M., Staneva R., Hachmeriyan M., Angelova L. 16p11.2 Duplication Syndrome—A Case Report. Folia Med. 2021;63:138–141. doi: 10.3897/folmed.63.e52763. - DOI - PubMed
    1. Fernandez F.B.A., Roberts W., Chung B., Weksberg R., Meyn S., Szatmari P., Joseph-George A.M., MacKayKathy S., Noble W.B. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J. Med. Genet. 2010;47:195–203. doi: 10.1136/jmg.2009.069369. - DOI - PubMed