Breaking new ground: Exploring de novo chromosomal rearrangements in 1p36 microdeletion
Abstract
Chromosomal structural variations (S.Vs.) are associated with various phenotypes. This occurs during DNA replication and disturbs genes within the S.V. region, contributing to specific phenotypes. In this case report, the patient was diagnosed with neurodevelopmental delay (NDD), which was further investigated using array comparative genomic hybridization (CGH), which revealed that two S.V. strains are pathogenic to chromosome 1 and are associated with 1p36 microdeletion. The other was a microduplication in 2p35.3, identified as a variant of unknown significance. The patient’s phenotype matched that of 1p36 deletion syndrome. Two terminal rearrangements could result from the derivative of an unbalanced translocation between the short arms of chromosomes one and two.
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