Molecular Pathology — Flashcards

Flashcard 51: The _____ translocation involves a reciprocal exchange between chromosome 9 and 22, resulting in constitutive tyrosine kinase activity and ultimately CML or some forms of ALL

Answer: BCR-ABL

Extra: This translocation forms the **Philadelphia chromosome**, $t(9;22)(q34;q11)$. The resulting **BCR-ABL** fusion protein has constitutive **tyrosine kinase** activity and is the target of **Imatinib**.

Flashcard 52: 4% of patients with non-small cell lung carcinoma have an _____ of chromosome 2 that creates an fusion gene between EML4 and ALK

Answer: inversion

Flashcard 53: What is the mode of inheritance of piebaldism?

Answer: Autosomal dominant

Flashcard 54: What is the mode of inheritance of facioscapulohumeral dystrophy?

Answer: Autosomal dominant

Flashcard 55: A ring chromosome is denoted by the symbol _____ in human genetics.

Answer: r

Flashcard 56: What is the mode of inheritance of gyrate atrophy?

Answer: Autosomal recessive

Flashcard 57: Alagille syndrome is associated with mutations in the _____ gene in a small minority (<1%) of patients.

Answer: NOTCH2

Flashcard 58: In a small fraction of patients with normal cytogenetic studies, targeted evaluation of DiGeorge locus genes, such as _____, may be indicated.

Answer: TBX1

Flashcard 59: What are the modes of inheritance for Ehlers-Danlos syndrome (EDS)?

Answer: Autosomal dominant, Autosomal recessive, and X-linked (rare)

Extra: Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders. Most common forms (Classical, Vascular) are **autosomal dominant**. Some forms (Kyphoscoliotic, Dermatosparaxis) are **autosomal recessive**. X-linked inheritance is historically described but very rare.

Flashcard 60: In Array-based Comparative Genomic Hybridization (aCGH), if the contribution from both genomes is equal, then the spots on the array will fluoresce _____.

Answer: yellow