2014 Chromosome Microarray

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Which of the following is a limitation of chromosome microarray?

A. Can not detect an unbalanced chromosomal translocation
B. Can not detect aneuploidy
C. Can not detect copy number variants (CNV's)
D. Can not detect low level mosaicism
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Terms in this set (13)
Which of the following statements regarding Copy Number Variants (CNV) is false?

A. Most micro-deletion and micro-duplication syndromes are caused by CNV's that are >500kb.
B. Approximately 45-50% of CNV's that are <500kb are benign.
C. Parental testing can help to determine the pathogenicity of CNV's of unclear clinical significance.
D. CNV's are a common type of genetic variation in the general population
Which of the following is not a key element of pre-test counseling for chromosome microarray A. Discussion of future research studies B. Detection rate C. Testing limitations D. Potential resultsAnswer: AA 6 year old male with autism and dysmorphic features was found to a Copy Number Variant (CNV) of unclear clinical significance on X chromosome. Which of the following is the best first step? A. Search for autosomal recessive conditions in the region of the CNV B. Testing of both parents C. Paternal testing D. Maternal testingAnswer: DA 7 year old female with global developmental delay and multiple congenital anomalies has a CNV of unclear clinical significance on chromosome 16. Parental testing is performed and normal. The most likely interpretation is: A. The parents are likley first or second degree relatives B. This information is not helpful for interpretation C. The CNV is de novo and more likely to be benign D. The CNV is de novo and more likely to be pathogenicAnswer: D