Variants
When a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent
What is uniparental disomy?
The cause of Silver- Russell Syndrome
What is an imprinting disorder?
supercharged oxygen molecules that cause damage to DNA that prevents the DNA from replicating, which prevents the cell itself from reproducing.
What is Bleomycin?
The 3 diseases associated with chromosome 15
What are Marfan syndrome, Angelman syndrome, and Prader-Willi syndrome?
Which type of cells remain in G0?
What are Red Blood Cells and Neurons?
Variant group for missense mutations
What is non-synonymous substitution?
Neurodevelopmental regression, repetitive stereotypic hand movements, acquired microcephaly, neonatal to early childhood onset
What is Rett Syndrome?
Slows DNA polymerase movement at replication forks and induces an S phase cell cycle arrest in proliferating cells
What is Hydroxyurea?
Clinical Correlations of Inflamed kidneys, deafness, and hemaurita
What is Alport syndrome?
Has single-gene pathogenic variants than chromosome-level changes. Usually causes dominant single-gene disease.
What is paternal age effect?
Abnormalities are associated with multisystem developmental disorders.
What are cohesinopathies?
Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS), Prader-Willi syndrome (PWS), and Silver-Russell syndrome (SRS)
What are imprinting disorders?
DNA synthesis by inhibition of thymidylate synthase (TS) activity and also induces DNA and RNA strand breaks and apoptosis by direct incorporation into DNA and RNA.
What is 5-flurouracil?
Autosomal recessive disorder with pancytopenia and hyperpigmentation.
What is Type I Gaucher Disease?
A DNA sequence that acts in cis. May be upstream or downstream to the gene and may be in the same or the reverse orientation.
What is an enhancer?
Stands for a linear genomic reference sequence
What is the letter G?
CTG repeat expansion on the DMPK gene
What is Myotonic Dystrophy type 1?
Cell replication by disrupting normal mitotic spindle formation and arresting cell growth in the M phase of the cell cycle
What is Paclitaxel?
Requires aggressive therapeutic monitoring and interventional treatment of diabetes with an insulin pump is highly recommended because of the risk of acute episodes of hypoglycemia and ketoacidosis.
What is Wolcott-Rallison syndrome?
Short stretches of newly synthesized DNA representing the lagging strand
What are Okazaki fragments?
Mutation causing Duchenne Muscular Dystrophy
What is a frameshift mutation?
TBX1 variant, 22q11.21 deletion
What is Di George syndrome?
Bind to the microtubular proteins of the mitotic spindle and prevent cell division during the anaphase of mitosis. They arrest mitosis and cause cell death.
What are Vincristine and Vinblastine?
STAG2 variant, Xq25 and dosage sensative
What is Cohesinopathy?
Arrests cells in metaphase during chromosome analysis
What is adding colchicine?