Article

Characterization of a Rare Mosaic Unbalanced Translocation of t(3;12) in a Patient With Neurodevelopmental Disorders

2021-10-26

Abstract excerpt

<title>Abstract</title> <p>Background Unbalanced translocations may be <italic>de novo</italic> or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable phenotype depending on the tissue distribution and level of mosaicism. Mosaicism for structural chromosomal abnormalities is clinically challenging fo...

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Literature Corpus work: 55182276-cd4a-5047-ac0a-a103ce55b734
DOI: 10.21203/rs.3.rs-995538/v1

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