Genetic Disorders

Question 1

What is Klinefelter?

Answer 1

XXY

Tall thin male with testicular atrophy and infertility and intellectual disability

Question 2

What trisomy has polydactyly?

Answer 2

Trisomy 13, patau

Question 3

Prader wili inheritane from who?

Answer 3

The Papa give Prader willi

Question 4

Happy puppet from who?

Answer 4

Angelman from ANGEL mother

Question 5

Fragile X is trinucleotide. Symptoms and genetic?

Answer 5

X linked. Large face, jaw, ear, macroorchidism, hyperactivity

Question 6

Sum up heart issue with lithium teratogen?

Answer 6

Ebstein

Tricuspid issue and too low into R ventricle

WBW b/c dilated right atrium

Question 7

Subependymal noduels in brain with what?

Answer 7

Tuberous sclerosis

Question 8

Painful muscle cramps and myoglobinuria with strenuous exercise?

Answer 8

Type 5: McArdle

Question 9

Lactic acidosis, hyperlipidemia, hyperuricemia?

Answer 9

Type 1 VonGiekre

Question 10

Diaphragm weakness and resp failure?

Answer 10

Pompe: type 2 glycogen storage

Problem with the Pump!

Question 11

SEVERE fasting hypoglycemia and increased glycogen in liver?

Answer 11

Von gierke

Question 12

Hepatomegaly, hypoglycemia, hyperlipidemia but normal kidneys and lactate?

Answer 12

Type 3, cori disease. So not as severe as von gripe

Question 13

Female with normal height, but small head?

Answer 13

XXX. Associated with intellectual disability

Question 14

William syndrome?

Answer 14

Elf like face and friendly. Like Will Ferrell