Genetics

Question 1

Trisomy 21

Answer 1

Down Syndrome

Question 2

most common form of aneuploidy

Answer 2

Trisomy

Question 3

Trisomy 18

Answer 3

Edward Syndrome

Question 4

Trisomy 13

Answer 4

Patau Syndrome

Question 5

most common cause of hypogonadism and infertility in males; most common sex chromosome aneuploidy in humans

Answer 5

Klinefelter Syndrome

Question 6

IEM which cause sweaty feet/“rancid cheese” odor of urine

Answer 6

isovaleric acidemia

Question 7

IEM which produces mousey or musty urine odor

Answer 7

Phenylketonuria

Question 8

IEM which produces rotten fish urine odor

Answer 8

Trimethylaminuria/Dimethylglycine dehydrogenase deficiency

Question 9

IEM which cause boiled cabbage/rancid butter

Answer 9

Tyrosinemia type 1 // Hypermethioninemia

Question 10

mainstay treatment of Phenylketonuria

Answer 10

low-phenyalalanine diet

Question 11

current recommendation for blood phenylalanine level to be maintained

Answer 11

2-6 mg/dL throughout life

Question 12

impaired synthesis and distribution of this pigment causes Albinism

Answer 12

Melanin

Question 13

deficiency of BCKDH (Branched chain a ketoacid dehydrogenase) complex results to this IEM

Answer 13

Maple Syrup Urine Disease

Question 14

Enzyme defect: alpha galactosidase

Answer 14

Fabry disease

Question 15

enzyme defect: ceramidase

Answer 15

Farber disease

Question 16

enzyme defect: beta hexosaminidase A

Answer 16

Tay-Sachs disease

Question 17

enzyme defect: beta hexosaminidase B

Answer 17

Sandhoff disease

Question 18

enzyme defect: glucocerebrosidase

Answer 18

gaucher disease

Question 19

enzyme defect: sphingomyelinase

Answer 19

Niemann-Pick Disease

Question 20

enzyme defect: beta galactocerebrosidase

Answer 20

Krabbe disease

Question 21

rare fatal autosomal dominant segmental premature aging disease

Answer 21

Hutchinson-Gilford Progeria Syndrome (Progeria)

Question 22

what happens in children with progeria

Answer 22

they develop premature progressive atherosclerosis, usually die of heart failure

Question 23

Cardinal characteristic of Fragile X syndrome

Answer 23

testicular enlargement (macroorchidism)

Question 24

elevated levels of succinylacetone in serum and urine are diagnostic of this IEM

Answer 24

Tyrosinemia Type I

Question 25

laboratory findings commonly seen in Type I Glycogen storage Disease

Answer 25

Hypoglycemia Lactic Acidosis Hyperuricemia Hyperlipidemia

Question 26

what is reported in 80% to >90% of female patients with classic galactosemia

Answer 26

Hypergonadotropic hypogonadism

Question 27

patients with galactosemia are at increased risk of what disease in neonates

Answer 27

E. coli sepsis

Question 28

Presence of these 2 symptoms is suggestive of Lesch nyhan disease

Answer 28

Dystonia + self mutilation of mouth and fingers

Question 29

Hall’s criteria to aid in diagnosis of Down Syndrome

Answer 29

Hypotonia Poor Moro Reflex Flat face Upward slanted palpebral fissures Joint hyperflexibility Short neck, redundant skin Short 5th digit with clinodactyly Single transverse palmar creases

Question 30

enumerate symptoms that might suggest a genetic metabolic disease and part of the initial clinical approach to a full term newborn infant with a suspected genetic metabolic disorder

Answer 30

Poor feeding Vomiting (not due to GI abnormalities) Lethargy Convulsion — not responsive to IV glucose, calcium or vitamin B6 Coma