Genetics

Question 1

These are abnormal cells that do not contain a multiple of haploid number of chromosomes

Answer 1

Aneuploidy Cells

Question 2

This is the most common human chromosome abnormality

Answer 2

Aneuploidy

Question 3

The most common cause of aneuploidy

Answer 3

Nondisjunction

Question 4

This most common form of aneuploidy

Answer 4

Trisomy

Question 5

This most common form of aneuploidy

Answer 5

Trisomy

Question 6

Down Syndrome

Answer 6

Trisomy 21

Question 7

Trisomy 18

Answer 7

Edwards Syndrome

Question 8

Trisomy 13

Answer 8

Patau Syndrome

Question 9

The most common type of trisomy

Answer 9

Trisomy 21 (Down Syndrome)

Question 10

Advanced maternal age (>35y.o) increases the occurence of trisomy 21

Answer 10

True

Question 11

The most common genetic cause of moderate mental retardation

Answer 11

Down Syndrome

Question 12

In this syndrome, patients mostly have difficulty using expressive language and the developmental delay is universal

Answer 12

Trisomy 21

Question 13

There is complete or partial monosomy of the X chromosome and defined by a combination of phenotypic features

Answer 13

Turner Syndrome (45,X)

Question 14

Clinical findings include small for gestational age, webbing of neck, protruding ears, lymphedema of the hands and feet

Answer 14

Turner Syndrome

Question 15

There is gonadal dysgenesis in these patients and may lack secondary sex characteristics

Answer 15

Turner Syndrome

Question 16

This autosomal dominant syndrome is somewhat similar with Turner Syndrome but involves the RAS-MAPK pathway

Answer 16

Noonan Syndrome

Question 17

These patients are phenotypically males who develops secondary sex characteristics late and may develop gynecomastia

Answer 17

Klinefelter Syndrome (47,XXY or 47,XXXY)

Question 18

Patients diagnosed to have Klinefelter Syndrome tends to show behavioral problems, learning disabilities and deficits in language

Answer 18

True

Question 19

This is the most common sex chromosome aneuploidy in humans

Answer 19

Klinefelter Syndrome

Question 20

These are cases where in males have mental retardation, autistic behavior, macro-orchidism and facial features such as long face, large ears and a prominent square jaw in (comparison to Klinefleter Syndrome)

Answer 20

Fragile Chromosome Sites (Fragile X)

Question 21

In Autosomal Dominant Inheritance:
Appears in every generation (Everyone is equally affected)
Mutations in the genes code for regulatoey or structural proteins
Each child has 1 in 2 chances of being affected

Answer 21

True

Question 22

In Autosomal Recessive Inheritance:
Traits appears in siblings
A normal sibling can be a carrier (2/3)
Traits generally involve mutations in genes that code for enzymes and are associated with serious illness and shortened life span

Answer 22

True

Question 23

In X-Linked Recessive Inheritance:
Incidence is higher in males
Female carriers may pass it to their sons (50%)
Affected males transmit it to their female daughters but never their sons
May skip generations

Answer 23

True

Question 24

Sweaty Feet, Unpleasant smell (acrid)

Answer 24

Glutaric Acidemia
Isovaleric Acidemia

Question 25

Hawkinsinuria

Answer 25

Swimming pool smell

Question 26

Cat Urine Tomcat Urine

Answer 26

3-Hydroxy-3-Methylglutaric Aciduria Multiple Carboxylase Deficiency

Question 27

Maple Syrup

Answer 27

Maple Syrup Urine Disease

Question 28

Maple Syrup

Answer 28

Maple Syrup Urine Disease

Question 29

Hypermethioninemia Tyrosinemia

Answer 29

Boiled Cabbage, Rancid Butter

Question 30

Mousey or musty odor

Answer 30

Phenylketonuria

Question 31

Mousey or musty odor

Answer 31

Phenylketonuria

Question 32

Trimethylaminuria

Answer 32

Rotting fish smell

Question 33

Trimethylaminuria

Answer 33

Rotting fish smell

Question 34

It is the most common of the inborn errors of metabolism in our country and is due to the deficiency of enzymes such as leucine, isoleucine and valine

Answer 34

Maple Syrup Urine Disease

Question 35

It is an IEM that is due to the deficiency of the enzyme uridyl tramsferase and presents to have jaundice, hepatomegally, hypoglycemia, seizures, lethargy, feeding difficulties, viteous hemorrhage, hepatic failurea and splenomegally

Answer 35

Galactosemia

Question 36

There is improvement of symptoms in this IEM if milk is withdrawn and is replaced by a lactose-free nutrition

Answer 36

Galactosemia

Question 37

These are hereditary, progressive diseases that causes mutations of genes coding for lysosomal enzymes

Answer 37

Mucopolysaccharidoses

Question 38

Patients appears normal at birth but is observed to have inguinal hernias present upon assessment

Answer 38

Hurler Disease

Question 39

In these disease, patients could have hepatosplenomegally,coarse facial features, large tongue, prominent forehead, joint stiffness, short stature and skeletal dysplasia except for corneal clouding

Answer 39

Hunter Disease

Question 40

It presents with hyperuricemia, uroc acid nephrolithiasis and acite inflammatory arthritis

Answer 40

Gout

Question 41

When hyperuricemia amd gout occur in childhood, it is most often due to rapid tissue breakdown or cellular turnover leading to increased or decreased excretion of urice acid called as primary gout

Answer 41

False

Question 42

This disease is an X-Linked disorder characterized by hyperuricemia, intelectual disability and compulsive bitting

Answer 42

Lesch-Nyhan Disease

Question 43

Trisomy 18: Edwards

Answer 43

Prominent occipital/flat forehead Rocker bottom feet Overlapping of fingers/clenching

Question 44

Trisomy 13: Patau

Answer 44

Slopping of Forehead Overlapling fingers + polydactyly Cutis congenita Clefts

Question 45

Trisomy 13: Patau

Answer 45

Redumentary skin (Nuchal) Big big toe with big gap of the toes

Question 46

Trisomy 21: Down Syndrome

Answer 46

Redumentary of the skin Big big toe witb big gap of toes

Question 47

Advanced maternal age of >35: Risks

Answer 47

Trisomy 13,18, 21 Triple X Syndrome Klinefelter Syndrome