Molecular Genetics
This term is used to define a relationship in which both parties have a common ancestor, second cousin or closer.
What is consanguinity?
If no environmental cause is present, an IQ score below ___ warrants a referral to genetics.
What is 70?
At what age is a mother considered advanced maternal age?
What is 35 years old?
A one month old female is brought in by her mother presenting for genetic follow up. The patient has upslanted palpebral fissures, a flat face, small ears, and epicanthal folds. What genetic syndrome is suspected considering this patient’s presentation?
What is Down Syndrome (Trisomy 21)?
Ideally, how many generations of family history should be obtained when taking a complete history?
What is 3?
This is the term for a random error in which chromosomes fail to separate correctly resulting in an extra or missing chromosome.
What is nondisjunction?
This is the term used to describe children that are late to meet developmental milestones.
What is developmentally delayed?
Lacking this supplement, generally found in prenatal vitamins, can lead to the development of neural tube defects.
What is Folic Acid?
A 28 year old male presents for genetic evaluation. The patient is noted to be tall of stature and recent lab results done with his PCP show low testosterone. Small testes and sparse pubic and axillary hair are noted on the physical exam. What genetic syndrome do you suspect?
What is Klinefelter Syndrome?
This process, also known as gene expression, involves copying the DNA information into a related molecule called messenger ribonucleic acid (mRNA).
What is transcription?
This term refers to when a section of one chromosome breaks off and fuses with another area of a chromosome.
What is translocation?
How many disorders does the SCDHEC NEONATAL screening program test for?
What is 53?
While reviewing a pregnant patient’s chart, you see that the patient is a G4P3. How many pregnancies has this patient had?
What is 4?
A 14 year old female presents for evaluation for a sports physical. The patient is noted to be short of stature and has not yet had her menses. What genetic syndrome do you initially suspect?
What is Turner Syndrome?
This condition is associated with poor weight gain, fatigue, delayed motor development and poor feeding.
What is failure to thrive?
This term refers to the visual appearance of a patient's chromosomal expression. One of each chromosome is visualized.
What is a karyotype?
The MCHAT, ADOS-2, and DSM-5 are screening/testing tools used to evaluate for what developmental disorder?
What is Autism?
This is a household activity, involving pets, that qualifies as a maternal exposure and can lead to birth defects.
What is cleaning the litter box? Toxoplasmosis
A 5 year old male brought in by his father presents to the clinic for genetic evaluation. Upon initial evaluation, you notice that the patient has a gait ataxia, lateral curvature of his spine, and widely spaced teeth. For the duration of the evaluation, the patient does not speak, but you notice that he is extremely happy and easily excitable. What genetic syndrome do you suspect?
What is Angelman Syndrome?
This disease process is caused by a mutation in the CFTR gene and causes an increase in thick mucus production, exercise intolerance and recurrent lung infections.
What is cystic fibrosis?
The test that determines if a patient has a certain medical condition. The test consists of analyzing enzymatic activity on the patient's DNA.
What is Methylation Analysis?
When taking a pregnancy history, what does the acronym N.I.P.S. stand for?
What is Non-Invasive Prenatal Screening?
Specific to South Carolina, what network can providers use to make genetic testing referrals?
What is BabyNet?
A 5 year old child is brought to your clinic presenting with below average growth, excessive hunger, morbid obesity, and appears to have an intellectual disability. Blood tests and methylation analysis shows increased methylation on chromosome 15. What genetic disorder is the patient most likely to have?
What is Prader-Willi Syndrome?
What test is used to examine about 20,000 genes in a patient?
What is exome sequencing?