Example of abnormal chromosome deletion

True or false: Deletions do not result in serious complications

True or False: Duplication are more serious than Deletions

Results in no loss or gain of genetic material. Chromosome breaks and part is inserted backwards.

Interchanging of genetic material between nonhomologous chromosomes

Which chromosome abnormalities have offspring with chromosome deletions/duplication NOT directly inherited

Translocation along the long arms of two, acrocentric nonhomologous chromosomes fuse at the centromere, forming a single chromosome. Confined to chromosomes 12,14,15,21 and 22

What disease is associated with Robertsonian Translocation, account for 3-5% of occurances

Number of areas on chromosomes that develop microscopically observable breaks and gaps when the cells are cultured in a folate-deficient medium 

Fragile site located on the long arm of the X chromosome

2nd most common genetic cause of intellectual disability (after Down Syndrome)

Caused by elevated (>200) repeated DNA sequences in the first exon of the X chromosome. Increase of these repeated sequences in successive generations can lead to expression

Test used to identify heterozygous carrier for recessive disease

Which of the following Prenatal diagnostic testing does NOT test DNA

Which prenatal diagnostic testing involves embryo biopsy?

Which of the following serves as the vector for Gene Therapy

Therapy most commonly used for conditions in which a mutation has caused the absence of a gene product in a cell

Caused by lack of a spinal motor neuron protein

What two medication used to treat SMA

Which is NOT a type of epigenetics

What is an example of DNA methylation

True or False: Heterochromatin is loosely bound and can be easily transcribed