Article

Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32

2024-02-19

Abstract excerpt

<title>Abstract</title> <p>Despite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female proband with a NDD, mildly dysmorphic facial features, and brain stem hypoplasia on neuroimaging. Comprehensive genomic analyses revealed a terminal 5p loss and terminal 18q gain in the proband while a diploid copy number for chromos...

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Literature Corpus work: 943bd46d-9171-5333-9abf-b6e3e0457082
DOI: 10.21203/rs.3.rs-3949622/v1

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Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32DOI 10.21203/rs.3.rs-3949622/v1Read

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