Chromosome Instability Syndromes

Question 1

How is ataxia telangiectasia mostly diagnosed?

Answer 1

Clinical examination

Question 2

True/False: Fanconi Anemia is a single gene defect

Answer 2

False (7 genes identified, FANCA most often mutated)

Question 3

Diagnosis of ___ is made by exposing cells to clastogenic (chromosome breaking) agents

Answer 3

Fanconi Anemia: marked increase in chromatid breakage and abnormal chromatid association figures

Question 4

Diagnosis of ___ is based on clinical features and confirmed by cytogenetic demonstration of increased Sister Chromatid Exchange

Answer 4

Bloom Syndrome