Molecular Pathology — Flashcards

_____ is due to an activating mutation in the fibroblast growth factor receptor 3 (FGFR3) gene

_____ syndrome is most commonly characterized by a 45,XO karyotype

_____ syndrome is caused by a defect in fibrillin, a glycoprotein that forms a sheath around elastin

Mutations that cause _____ of the HER2 receptor can precipitate development of certain Breast* and Gastric* Cancers by amplifying the signal transduction

_____ disease is due to a deletion of the VHL gene on chromosome 3p, leading unregulated activity of HIF1a

_____ syndrome is most commonly characterized by a 47,XXY karyotype

Over 85% of mutations in the FGFR3 gene occur _____ and are related to increased paternal age

Germline loss-of-function mutations of the _____ gene cause Gorlin syndrome.

Robertsonian translocation leading to Down's syndrome will involve the fusion of long arms of chromosomes _____ and 21

_____ are characterized by a 47,XYY karyotype