Genetics

Question 1

Trisomy XXY

Answer 1

Klienfelter’s “tall with small balls” syndrom

Question 2

Non-functional X, if missing XO

Answer 2

Turner’s “Short Girl” Syndrome

Question 3

Tx for Turner’s “Short Girl” Syndrome

Answer 3

Growth hormone, estrogen, progesterone

Question 4

Tx for Klienfelter’s “small balls” syndrome

Answer 4

Testosterone replacement therapy, removal of breasts, and speech therapy. Fertility Tx when older

Question 5

Autisim

Answer 5

Fragile X “big balls” syndrome. Not enough fragile X

Question 6

Down syndrome

Answer 6

Trisomy-21. x3 copies of chromosome 21

Question 7

Abnormal production of collagen: Joint hypermobility, stretchy, dough like skin that bruises easily

Answer 7

Ehler-Danlos “too flexible” syndrome

Question 8

Fibrillin-1- gene - tall with sunken breastbone (pectus excavatum), tall with long fingers and arms

Answer 8

Marfan “too tall MVP (mitral valve prolapse)” syndrome

Question 9

Deletion of chromosome 15

Answer 9

Prader-Willi “floppy-baby can’t have babies” syndrome POLYHYDRAMINOS in utero.

Question 10

Has Cafe Au Lait spots on skin

Answer 10

Neurofibromatosis-1 “coffee spotted” syndrome- Mutated NF-1 gene

Question 11

Develop bilateral vestibular schwanomas (Swans) by age of 30. Got hearing problems

Answer 11

Neurofibromatosis-2 “swan” syndrome- Mutated NF-2 gene

Question 12

Mutation of Hexa gene- Loss of motor skills starting in infancy. Ashkenazi Jewish population most affected.

Answer 12

Tay-Sachs “Uncoordinated Jew” DZ

Question 13

Microdeltion of chromosome 22- HYPOCALCEMIA and cleft pallet.

Answer 13

DiGeorge “cleft pallet” syndrome

Question 14

Genetic mutation for type I collagen, blue sclera, brittle bones, deafness

Answer 14

Blue Osteogenesis Imperfecta

Question 15

Mutation of UGT1A1 gene - Clinical manifestations are typically not apparent unless the affected individual is in a state of physical exertion, fasting, illness, stress, hemolysis, or menstruation. LOW UNCONJUGATED BILLIRUBIN and jaundice

Answer 15

Gilbert “yellow eyes” Syndrome

Question 16

congenital agenesis of the ganglion cells - FAILURE TO PASS MENCONIUM

Answer 16

Hirschsprung’s “new baby can’t poop” disease

Question 17

Diagnosed with rectal biopsy in newborns

Answer 17

Hirschsprung’s “new baby can’t poop” disease

Question 18

Congenital dermal melanocytosis due to mid-dermal melanocytes (melanin producing cells)
that fail to migrate to the epidermis. Blue Mongolain spots commonly over sacrum and shoulders.

Answer 18

Mongolian dermal melanosis

Question 19

large blue patch is present over the sacrum or shoulders

Answer 19

Mongolian dermal melanosis

Question 20

most common congenital malformation of the GI tract,

Answer 20

Meckel’s diverticulum

Question 21

follows the rule of 2s: the diverticulum is 2 cm wide and 2 inches long and usually located within 2 feet of the ileocecal valve. The condition occurs in 2% of the population, and only 2% of affected patients ever become symptomatic.

Answer 21

Meckel’s diverticulum

Question 22

classic presentation is painless rectal bleeding in a boy younger than five years

Answer 22

Meckel’s diverticulum

Question 23

technetium-99m pertechnetate scintiscan

Answer 23

Meckel’s diverticulum

Question 24

upward slanted palpebral fissues, epicanthal folds, speckled irises (Brushfield spots), delayed fontanelle closure, small nose, flat nasal bridge, protruding tongue, sandal toe deformity or wide gap between first and second toe

Answer 24

Trisomy 21 or Down syndrome

Question 25

expansion of the cytosine-adenine-guanine trinucleotide repeats in the HTT gene.

Answer 25

Huntington disease

Question 26

oligoclonal bands of immunoglobulin G. w/ pleocytosis (inc. lymphocytes)

Answer 26

multiple sclerosis

Question 27

POLYHYDRAMINOS in utero.

Answer 27

Prader-Willi “floppy-baby can’t have babies” syndrome

Question 28

LOW UNCONJUGATED BILLIRUBIN

Answer 28

Gilbert “yellow eyes” Syndrome