Genetic and congenital disorders

Question 1

What is trisomy 21 disorder?

Answer 1

Down syndrome- MC chromosomal disorder (1:700)

Question 2

What are the symptoms of trisomy 21 disorder?

Answer 2

Mental retardation, flat face, cardiac malformations, Alzheimer’s; avg. age of death- 47

Question 3

What is trisomy 18 disorder?

Answer 3

Edwards syndrome

Question 4

What are the sx of Edwards syndrome?

Answer 4

Mental retardation, growth delays, failure to thrive, kidney, GI and cardiac malformations (septal defects); rarely survive past 10 years

Question 5

What is trisomy 13 disorder?

Answer 5

Patau syndrome

Question 6

What are the sx of patau syndrome?

Answer 6

Mental retardation, microcephaly, cardiac and renal malformations; rarely survive past 1

Question 7

Which disorder is a fragmentation of chromosome 5 (sporadic mutation)?

Answer 7

Cri du chat

Question 8

What are the sx of cri du chat?

Answer 8

Cat like cry, dysfunction: cognition, speech, motor, drooling, poor suckling

Question 9

What chromosomal disorder is klinefelter?

Answer 9

XXY; phenotypically male; MC cause of male sterility

Question 10

Which disorder is a loss of 1 X chromosome, typically 45X?

Answer 10

Turner syndrome; phenotypically female

Question 11

What are the sx of Turner syndrome?

Answer 11

Androgynous appearance, short, amenorrhea, neck webbing, cardiovascular malformations

Question 12

What is the genetic inheritance of fragile X?

Answer 12

Grandfathers to grandsons through daughters, triplet repeat mutation

Question 13

What are the sx of Fragile X?

Answer 13

Familial mental retardation, elongated face, everted ears,

Macroorchidism (large testes)

Question 14

What are the 5 need to know lysosomal storage diseases?

Answer 14

Tay-Sachs
Niemann-Pick A,B,C
Gaucher Disease
Mucopolysaccharidosis

Question 15

which disease is the inability to metabolize GM2 gangliosides leading to cherry red macula, mental retardation and blindness? Common in Ashkenazi Jews

Answer 15

Tay-Sachs disease; lethal by age 3

Question 16

which disease is caused by acid sphingomyelinase deficiency and fatal by age 3?

Answer 16

niemann-pick type A & B

Question 17

which Niemann-Pick is associated with defective lipid transport, more common and can have cognitive and motor deficits?

Answer 17

Niemann-Pick type C

Question 18

which disease is caused by a glucocerebrosidase gene mutation?

Answer 18

Gaucher disease- gaucher cells in liver erlenmeyer flask deformity*

Question 19

which disease is caused by a group of ECM breakdown enzymes and is characterized with course facial features, clouding of cornea and cardiovascular disease?

Answer 19

Mucopolysaccharoidosis

Question 20

What are the 3 need to know glycogen storage disease?

Answer 20

Von Gierke
McArdle
Pompe

Question 21

Which is the most common GSD, is a hepatic type and causes hepatomegaly and hypoglycemia?

Answer 21

Von Gierke disease

Question 22

Which GSD is a myopathic type causing muscle cramps and hypoglycemia?

Answer 22

McArdle disease

Question 23

which GSD affects all tissues and causes lethal cardiomyopathy?

Answer 23

Pompe disease

Question 24

Which metabolic disease causes copper accumulation in tissues, may cause liver failure and has the characteristic Kayser-Fleisher ring around the iris?

Answer 24

Wilson’s disease- confusion, coma, trauma

Question 25

what does the acronym for perinatal infections stand for? TORCH

Answer 25

``` Toxoplasmosis Other (treponema pallidum, HIV, plasmodium falciparum) Rubella Cytomegalovirus Herpes ```

Question 26

which congenital disorder is a hyaline membrane disease d/t prematurity and insufficient pulmonary surfactant?

Answer 26

NRDS | neonatal respiratory distress syndrome

Question 27

what is fetal hydrops and what are the 2 types?

Answer 27

abnormal accumulation of fluid in 2 or more fetal compartments; 2 types: immune and non-immune

Question 28

which hydrops is antibody-induced, from a maternal-fetal blood incompatibility and rare?

Answer 28

immune hydrops

Question 29

which hydrops is associated with Turner syndrome and has edema associated with chromosomal abnormalities?

Answer 29

non immune hydrops

Question 30

which disorder is caused by a fibrillin gene mutation causing a defective ECM and has characteristics such as slender long arms, pectus deformation (chest wall) arachnodactyly (spider fingers) hypermobility and dissecting aortic aneurysm?

Answer 30

Marfans Syndrome- fibrillin

Question 31

which pediatric tumor has characteristic Homer wright (pseudo) rosettes and "blueberry muffin baby"

Answer 31

neuroblastoma- neural crest cells; malignant

Question 32

what is the most common pediatric eye malignancy with an RB gene mutation and Flexner-Wintersteiner rosette?

Answer 32

retinoblastoma

Question 33

Homer-Wright (pseudo) rosette

Answer 33

neuroblastoma

Question 34

Flexor-Wintersteiner rosette

Answer 34

retinoblastoma

Question 35

what is another name for nephroblastoma?

Answer 35

Wilms tumor

Question 36

what is the most common tumor in infancy? port wine stain?

Answer 36

hemangioma

Question 37

what are the 4 seronegative spondyloarthopathies that are positive for HLA-B27?

Answer 37

psoriatic arthritis enteropathic arthritis ankylosing spondylitis Reiters(reactive) arthritis

Question 38

what is enteropathic arthritis associated with?

Answer 38

ulcerative colitis or shigellosis