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Updated: Apr 19, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation
Giorgia Mandrile1, Eleonora Di Gregorio2, Alessandro Calcia3
1Medical Genetics Unit, "San Luigi Gonzaga" University Hospital, University of Torino, Regione Gonzole 10, 10143 Orbassano, Italy ; Department of Clinical & Biological Sciences, University of Torino, 10143 Orbassano, Italy.
Abstract:
A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3-3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.
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