Peds
What is whole genome sequencing?
This is a hallmark feature of Peutz Jehger's syndrome
What is Mucocutaneous hyperpigmentation?
Amniocentesis is typically performed after this many weeks.
What is 15 weeks gestation?
Supravalvar aortic stenosis is most associated with this condition.
What is Williams syndrome?
Hereditary diffuse gastric cancer is associated with this gene.
What is CHD1?
The most common genetic mutation associated with Beckwith-Wiedemann Syndrome
Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) is a feature of this condition.
What is Familial adenomatous polyposis?
This is the primary advantage of chronic villus sampling over amniocentesis.
These are the two most common types of congenital heart anomalies in infants with Down syndrome.
What is AV canal defect & VSD?
Peutz-Jehgers syndrome is associated with this gene.
What is SKT11?
Of the following, this is NOT included in the classic triad for Emery-Dreifuss Muscular Dystrophy?
A. Joint contractures that begin in early childhood
B. Muscle tremors
C. Slowly progressive muscle weakness and wasting
D. Cardiac involvement
What is Muscle Tremors?
This is the approximate risk for developing breast cancer for someone with a PALB2 mutation.
What is 30-50%?
A patient is found to have Down syndrome due to a translocation. The parents need this test to determine recurrence risk.
What is a karyotype?
This cardiac defect is most commonly associated with Turner's Syndrome.
What is bicuspid aortic valve?
Hereditary Mixed Polyposis Syndrome is associated with this gene.
What is GREM1?
Macrosomia, macroglossia, and omphalocele should automatically trigger you to order this type of testing for the highest overall yield?
What is Methylation analysis?
This is only known cancer risk associated with the HOXB13 gene.
What is prostate cancer?
A prenatal test that can detect open neural tube defects
What is Maternal serum AFP
This cardiomyopathy is characterized by the progressive fibrofatty replacement of the myocardium.
What is the Arrhythmogenic Cardiomyopathy?
This is the largest gene in the human body.
What is DMD?
Any child with aplastic anemia should be worked up for possible... of this condition.
What is Fanconi Anemia?
A 5-year-old child presents with a photosensitive "butterfly rash" on the cheeks, very short stature, and newly diagnosed leukemia. An underlying inherited cancer predisposition syndrome is suspected. This is the test that is most likely to establish a diagnosis.
What is Sister chromatid exchange analysis.
Increased nuchal translucency is associated with all of the following EXCEPT:
Chromosomal abnormalities
Congenital heart defects
Single-gene disorders such as Noonan syndrome
Neural tube defects exclusively
What is neural tube defects exclusively?
Alpers-Huttenlocher syndrome is an inherited mitochondrial disease characterized by seizures, developmental regression, and liver dysfunction. This gene is associated with this condition.
What is POLG?