Genetics

Question 1

Trisomy 21 (Down Syndrome)

Answer 1

-flattened nasal bridge
-protruding tongue
-inner epicentral fold, and slanted palpebral tissues
-flat facial profile / abnormal head
-single palmer crease
-small ears
-short neck
Brush-field Spots, spots on iris

Question 2

XXY Syndrome (Kleinfelters)

Answer 2

most common sex linked abnormality in males
-infertility later in life
-hypogonadism, gynecomastia

Question 3

XO Karyotype (Turners Syndrome)

Answer 3

-most common sex-link abnormality in females
-webbed neck
-low hairline
-scoliosis
-“shield-shape” shape
-wide spaced nipples

Question 4

Marfans Syndrome

Answer 4

-Abe Lincoln
-connective tissue disorder
-tall stature, long thin extremities and fingers
-pectus carinatum or excavatum
hyperextension of joints, gene recurvatum, and kyphosis
-longer wingspan than height
-aortic regurgitation, mitral valve prolapse
-aortic dissection

Question 5

Tay-Sachs Disease

Answer 5

-Ashkenazic Jews /3-6months of age
-fatty enzymes build up in brain
-decrease muscle tone
-listlessness
-blindness
-deafness
-seizures
-dementia
-vegetative state typically die around age 5

Question 6

DiGeorge (VelocardioFacial) Syndrome

Answer 6

parathyroid glands and thymus affected
-increased susceptibility to infection d/t thyme aplasia
-congenital heart defects
-aortic arch anomalies
-ADHD/ anxiety
-Hypoparathyroidism and Hypocalciumia