History of Genetics & Genetic Counseling
This college created the first Master’s level genetic counseling training program.
What is Sarah Lawrence College?
What is an intron?
You are seeing a patient who has stellate irises. ____ is the first condition on your differential.
What is Williams syndrome?
This primary empathy response involves using your own words to capture the essence of what the patient said.
What is paraphrasing?
A popular form of prenatal genetic screening that compares maternal DNA to placental DNA.
What is cell-free DNA/noninvasive prenatal screening?
This chemist’s X-ray diffraction studies provided crucial clues to the structure of DNA.
Who is Rosalind Franklin?
The approximate number of genes in the human body.
What is 20,000?
A patient in her third trimester comes in for a prenatal follow-up ultrasound. A possible fetal cardiac rhabdomyoma is noted. You decide to order prenatal testing for what condition?
What is tuberous sclerosis?
This is the unconscious way that a client relates to the GC based on his/her history of relating to others.
What is transference?
This type of translocation involves the acrocentric chromosomes.
What is a Robertsonian translocation?
This is the current number of accredited genetic counseling training programs in the United States.
What is 54?
This concept explains why a seemingly de novo variant can be seen in multiple affected siblings in the same family.
What is gonadal mosaicism?
You are seeing a patient with a personal history of autism, macrocephaly, and mucocutaneous lesions. His mother had breast cancer and his maternal grandmother had thyroid cancer. Based on this history, ____ is highest on your differential.
What is Cowden syndrome?
In this coping style, a Patient tries to see any possible positive results or outcome.
What is positive reappraisal?
The approximate yield of whole exome sequencing for autism and other neurodevelopmental disorders.
What is 20%?
The location of the first NSGC meeting.
Where is San Diego?
DNA sequences that move from one location on the genome to another; can be used to introduce a piece of foreign DNA into a genome.
What is a transposon (transposable element)?
The advent of a treatment and effective screening technology for this condition led it to become the first condition that all newborns were routinely screened for.
What is phenylketonuria?
In this model, there is a mutual process in which the GC and patient participate in an educational exchange of genetic and biomedical information shaped by their unique psychological identities.
What is the reciprocal engagement model?
This is the current number of genes included on ACMG’s recommended list of secondary findings.
What is 81?