Molecular Pathology — Flashcards

Flashcard 51: _____ syndrome is caused by a congenital microdeletion of chromosome 7q (long arm)

Answer: Williams

Flashcard 52: _____ of the lung is associated with activating mutations in the KRAS, EGFR, and ALK genes

Answer: Adenocarcinoma

Flashcard 53: What is the mode of inheritance of facioscapulohumeral dystrophy?

Answer: Autosomal dominant

Flashcard 54: A ring chromosome is denoted by the symbol _____ in human genetics.

Answer: r

Flashcard 55: 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 56: Alagille syndrome is associated with mutations in the _____ gene in a small minority (<1%) of patients.

Answer: NOTCH2

Flashcard 57: What is the mode of inheritance of gyrate atrophy?

Answer: Autosomal recessive

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 is the mode of inheritance of piebaldism?

Answer: Autosomal dominant

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