Genetic Concerns

Question 1

Phenotype

definition
examples (2)

Answer 1

Outward, physical manifestations

dysmorphic features
short stature

Question 2

Genotype

Answer 2

Genetic makeup

Question 3

Pedigree history

AKA
how many generations?

Answer 3

Genogram

Three generations

Question 4

Typical characteristics of a child with PKU?

Answer 4

Blond, blue eyed, flat footed

Michael Poole

Question 5

What is another name for Down’s Syndrome?

Answer 5

Trisomy 21

Question 6

What causes people with Down’s sydrome to appear to have widely spaced eyes?

Answer 6

Their flattened nose

Question 7

Why do people with Down’s syndrome appear to have a large tongue?

Answer 7

Low tone

Question 8

What are inner epicanthal folds and who is likely to have them?

Answer 8

Redundant skin at the inner corner of the eye

Down’s syndrome likely to have

Question 9

What palmar feature can often be found in those with Down’s syndrome?

Answer 9

Single transverse palmar crease

Question 10

Down’s syndrome -

complications that may occur (8)

Answer 10

hearing or vision impairment
seizures
early dementia (age 30-40)
congenital heart disease such as septal defects
intestinal atresia
obesity
endocrine abnormalities - Diabetes
leukemia (4x greater risk)

Question 11

What is another name for Klinefelter’s Syndrome?

Answer 11

XXY syndrome

Question 12

Klinefelter’s syndrome -

males, females, or both

Answer 12

males

Question 13

Klinefelter’s syndrome -
what is the genetic situation?
significance?

Answer 13

An extra X chromosome

which results in a “little more female-ness”

Question 14

Klinefelter’s syndrome -

when do manifestations become apparent?

Answer 14

Puberty;

appears normal at birth

Question 15

Klinefelter’s syndrome -

may present initially with what complaint?

Answer 15

Infertility

Question 16

Klinefelter's syndrome -
phenotypical manifestations (7)

Answer 16

tall stature
abnormal body proportions
transverse palmar crease
underdeveloped secondary sex characteristics
gynecomastia
learning disability
personality impairment

Question 17

What is another name for Turner’s syndrome?

Answer 17

XO karyotype

Question 18

What is a KARYOTYPE?

Answer 18

The number and appearance of chromosomes

Question 19

Turner’s syndrome -

males, females, or both

Answer 19

females only

Question 20

Turner’s syndrome -

What percent survive to term?

Answer 20

Only 5%

Question 21

Turner’s syndrome -

What is a key finding in utero?

Answer 21

Lymph-EDEMA

resulting in a “puffy baby” and webbed neck

Question 22

Turner's syndrome -
phenotypical presentation (7)

Answer 22

short stature
low hairline
webbed neck 
"shield-shaped" chest
lack of secondary sex characteristics
learning disabilities
hypertension --> coarctation of aorta

Question 23

What is Marfan syndrome?

Answer 23

Inherited CONNECTIVE TISSUE disorder

Question 24

Marfan syndrome -

what systems are affected?

Answer 24

skeletal
cardiac
ophthalmic

Question 25

Marfan syndrome - 
phenotypical presentation (5)

Answer 25

tall 
arm span exceeds height
pectus carinatum or excavatum
kyphoscoliosis (curvature of spine)
hyperextension of joints

Question 26

Marfan syndrome -

typical facial appearance

Answer 26

long and narrow

Question 27

Marfan syndrome -

typical palate

Answer 27

high-arched and narrow

Question 28

Marfan syndrome -

cardiovascular significance

Answer 28

AR
MVP
AA

Question 29

Marfan syndrome -

eye involvement - terms and definitions

Answer 29

ectopia lentis - lens dislocation

iridodonesis - tremulousness of the iris on movement of the eye

Question 30

Tay-Sachs disease -

seen most in what population

Answer 30

Ashkenazic Jews

Question 31

Tay-Sachs disease -

age of onset

Answer 31

Normal at birth;

deterioration begins between @ 3 - 6 months

Question 32

Tay-Sachs disease -

life expectancy

Answer 32

usually die by age 7 to 8 years

Question 33

Tay-Sachs disease - 
typical progression (7)

Answer 33

decreased muscle tone
listlessness
blindness
deafness
seizures
vegetative state
death

Question 34

Tay-Sachs disease -

hallmark on eye exam

Answer 34

cherry red macula

Question 35

DiGeorge Syndrome -

otherwise known as…

Answer 35

Velo-cardio-facial syndrome

Question 36

DiGeorge Syndrome -

congenital defect affecting what areas of the body?

Answer 36

parathyroid
thymus
face (conotruncal anomalies)

Question 37

DiGeorge Syndrome - 
phenotypic presentation (3)

Answer 37

increased INFECTION (due to thymic dysplasia)
abnormal FACIES
- lateral displacement of inner canthi
- short palpebral fissures
- short phitrum
- micrognathia (receding chin)
- ear anomalies
AORTIC ARCH anomalies

Question 38

DiGeorge Syndrome -

endocrine effects

Answer 38

hypoparathyroidism

–> HYPOcalcemia –> seizures in infancy

Question 39

DiGeorge Syndrome -

cognitive and behavioral problems?

Answer 39

yes

Question 40

DiGeorge Syndrome -

cause of neonatal morbidity and mortality related to what?

Answer 40

cardiac defects

Question 41

Down’s syndrome -

what eye condition can be associated?

Answer 41

Brushfield spots (salt and pepper speckling of the iris)