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Heads or Tails: Incomplete Penetrance and Variable Expressivity at 15q11.2 Microdeletion (BP1-BP2)

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Article Type Case Series
Subject Medicine Group
OCLC JBRES Record
Teresa Enrique-Benedito*, Vanesa Senoret, Ana Nevot-Flor, Natalia Artunedo-Jimenez and M Arrizabalaga
Issue: Volume4-Issue4
Pages: 801-805
Received: 2023-04-17
Accepted: 2023-04-24
Published: 2023-04-27

Abstract

Neurodevelopmental disorders are a group of pathologies with increased frequency in pediatric practice. During the last decade, genetic studies such as CGH arrays have aided in the search for genetic gains or losses that may help explain the symptoms.

There are CNVs, like the 15q11.2 microdeletion between BP1 and BP2, that although considered pathological, may present incomplete penetrance and variable expression, both of which add difficulty to the already complicated task of genetic counseling to the family members.

Hereby we present cases of three patients with similar phenotypes in which microdeletion of 15q11.2 was detected.

FullText HTML FullText PDF DOI: 10.37871/jbres1738 Crossmark

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© 2023 Enrique-Benedito T, et al. Distributed under Creative Commons CC-BY 4.0 Creative CommonsAttribution

How to cite this article

Enrique-Benedito T, Senoret V, Nevot-Flor A, Artunedo-Jimenez N, Arrizabalaga M. Heads or Tails: Incomplete Penetrance and Variable Expressivity at 15q11.2 Microdeletion (BP1-BP2). J Biomed Res Environ Sci. 2023 Apr 27; 4(4): 801-805. doi: 10.37871/jbres1738, Article ID: JBRES1738, Available at: https://www.jelsciences.com/articles/jbres1738.pdf

Subject area(s)

Neurology

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