Molecular Pathology — Flashcards

_____ of the lung is associated with activating mutations in the KRAS, EGFR, and ALK genes

_____ syndrome is caused by a congenital microdeletion of chromosome 7q (long arm)

A ring chromosome is denoted by the symbol _____ in human genetics.

What is the mode of inheritence of piebaldism?_____

What is the mode of inheritence of gyrate atrophy?_____

In Array based Comparative Genomic Hybridization, if the contribution from both genomes is equal, then all spots on the array will flouresce _____.

What is the mode of inheritence of facioscapulohumeral dystrophy?_____

Alagille syndrome is associated with mutations in _____ gene in 10% of patients

What is the mode of inheritence of Elhers-Danlos syndrome?_____

In a small fraction (normal cytogenetic studies targeted evaluation of DiGeorge locus genes, such as _____, may be indicated