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Table 3 Thoracic aortic aneurysm/dissection (TAAD) associated genes analyzed in the present case. Next-generation sequencing was performed for the following 16 genes; deletion/duplication analysis was completed in 12/16 genes per protocol by the commercial genetic testing laboratory (GeneDx, Gaithersburg, MD)

From: Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

Gene   Analytical Methods
Sequencing Deletion/Duplication
ACTA2 Multisystem smooth muscle dysfunction syndrome
CBS Homocystinuria
COL3A1 Ehlers-Danlos syndrome type IV
COL5A1 Ehlers-Danlos syndrome type I
FBN1 Marfan syndrome
FBN2 Congenital contractural arachnodactyly
FLNA Ehlers-Danlos syndrome and periventricular nodular heterotopia, X-linked cardiac valvular dysplasia
MED12 FG syndrome, Lujan syndrome, X-linked Ohdo syndrome
MYH11 Patent ductus arteriosis
SKI Shprintzen-Goldberg syndrome
SLC2A10 Arterial tortuosity syndrome
SMAD3 Loeys-Dietz syndrome
TGFB2
TGFBR1
TGFBR2