Molecular Pathology — Flashcards

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

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

_____ are characterized by a 47,XYY karyotype

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

_____ is chromosomal rearrangement between non-homologous chromosomes

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

_____ 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 defect in the CNBP gene

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

_____ syndrome is associated with a WT1 gene mutation