Molecular Pathology — Flashcards

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

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

_____ syndrome is a disease from abnormal biogenesis of lysosome-related organelles with impaired melanosome maturation and absent dense bodies in thrombocytes.

In _____, 23 distinct fluorescent colours are made by mixing 5 fluorophores and each chromosome is identified by a unique colour.

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

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

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

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

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

Pendred syndrome is caused by a mutation in the gene _____ on chromosome 7, which codes for pendrin