Molecular Pathology — Flashcards

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

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

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

Missense mutations in protein _____, a subunit of a muscle calcium channel, are the most common cause of hypokalemic periodic paralysis

_____ is a process in which metaphase chromosomes are stained, ordered, and numbered according to morphology, size, arm-length ratio, and banding pattern

_____ is due to CTG trinucleotide repeat expansion in the DMPK gene

_____ is chromosomal rearrangement between non-homologous chromosomes

_____ syndrome is associated with a WT1 gene mutation

_____ is due to defect in the CNBP gene

Silencing of the _____ tumor suppressor gene is seen in cases of chondrosarcoma tumor with IDH1 or IDH2 mutations