Cardiology
This arrhythmia disorder also presents with hearing loss
What is Jervell + Lange-Nielson?
This type of breast cancer is most associated with mutations in the CDH1 gene
What is lobular breast cancer?
These two Lynch syndrome gene confers the highest lifetime risks to develop colon cancer
What are MSH2 and MLH1?
This is the most common autosomal trisomy in human conceptions
What is trisomy 16?
This ethical principle promotes benefits over harm. In the genetic counselor-patient relationship, it means that the genetic counselor should be an advocate for the patient
What is beneficence?
This cardiac condition is the leading cause of sudden cardiac death in athletes and young adults
What is ARVC?
Risk reducing mastectomy reduces the risk for breast cancer by this percentage
What is 90%?
This hereditary colon cancer syndromes has an autosomal recessive inheritance pattern
What is MUTYH-associated polyposis?
These are three possible reasons for a false positive on cfDNA screening
A genetic counselor works hard to provide equal time and access to all patients, based on this ethical principle
What is justice?
This X-linked disorder can present with left ventricular HCM
What is Fabry disease?
These genes are associated with AD cancer predisposition syndromes but can also cause AR Fanconi Anemia (Many options, list two)
What are: BRCA1; BRCA2; BRIP1; PALB2; RAD51C?
A patient with this condition reports a personal history of a "carpet of polyps" in his colon and extra teeth
What is Familial Adenomatous Polyposis (FAP)?
These are three possible reasons (different genetic/developmental mechanisms) for an increased nuchal translucency
What are: congenital heart defects, aneuploidies, Noonan syndrome, and/or skeletal dysplasias?
"Removing emotion and focusing on facts" is the definition of this defense mechanism
What is intellectualization?
These are the two most common genes associated with non-syndromic HCM
What are MYH7 and MYBPC3?
A patient with this condition presents with tricholemmonas and follicular thyroid cancer
What is PTEN or Cowden syndrome?
A patient with this condition presents with bowel intussusception and GI hamartomas with a "broccoli stalk" pathology
What is Peutz-Jeghers syndrome?
Low PAPP-A, high hCG, and increased nuchal translucency in the first trimester can be indicative of this condition.
What is Down syndrome?
If a patient is experiencing denial to a new diagnosis of Fragile X syndrome in her son, the genetic counselor should do this
What is: Allow the patient to process the information before attempting to intervene?
This arrhythmia has a 4:1 overrepresentation in men and can be triggered by sleep in individuals of Southeast Asian descent.
What is Brugada?
These are the 4 core cancers seen in Li Fraumeni syndrome
What are: sarcoma, breast, brain, and adrenocortical carcinoma (ACC)?
Turcot's syndrome presents with these brain tumors associated with different genes
What are: glioblastoma (MMR genes) and medulloblastoma (APC gene)?
This is the most common non-genetic cause of congenital hearing loss
What is CMV?
This occurs when a genetic counselor lets their own feelings shape the way they interact with or react to their client
What is countertransference?