Genetic Concerns Flashcards Preview

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Flashcards in Genetic Concerns Deck (41):
1

Phenotype

definition
examples (2)

Outward, physical manifestations

dysmorphic features
short stature

2

Genotype

Genetic makeup

3

Pedigree history

AKA
how many generations?

Genogram

Three generations

4

Typical characteristics of a child with PKU?

Blond, blue eyed, flat footed
(Michael Poole)

5

What is another name for Down's Syndrome?

Trisomy 21

6

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

Their flattened nose

7

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

Low tone

8

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

Redundant skin at the inner corner of the eye

Down's syndrome likely to have

9

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

Single transverse palmar crease

10

Down's syndrome -
complications that may occur (8)

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)

11

What is another name for Klinefelter's Syndrome?

XXY syndrome

12

Klinefelter's syndrome -
males, females, or both

males

13

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

An extra X chromosome

which results in a "little more female-ness"

14

Klinefelter's syndrome -
when do manifestations become apparent?

Puberty;
appears normal at birth

15

Klinefelter's syndrome -
may present initially with what complaint?

Infertility

16

Klinefelter's syndrome -
phenotypical manifestations (7)

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

17

What is another name for Turner's syndrome?

XO karyotype

18

What is a KARYOTYPE?

The number and appearance of chromosomes

19

Turner's syndrome -
males, females, or both

females only

20

Turner's syndrome -
What percent survive to term?

Only 5%

21

Turner's syndrome -
What is a key finding in utero?

Lymph-EDEMA

resulting in a "puffy baby" and webbed neck

22

Turner's syndrome -
phenotypical presentation (7)

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

23

What is Marfan syndrome?

Inherited CONNECTIVE TISSUE disorder

24

Marfan syndrome -
what systems are affected?

skeletal
cardiac
ophthalmic

25

Marfan syndrome -
phenotypical presentation (5)

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

26

Marfan syndrome -
typical facial appearance

long and narrow

27

Marfan syndrome -
typical palate

high-arched and narrow

28

Marfan syndrome -
cardiovascular significance

AR
MVP
AA

29

Marfan syndrome -
eye involvement - terms and definitions

ectopia lentis - lens dislocation
iridodonesis - tremulousness of the iris on movement of the eye

30

Tay-Sachs disease -
seen most in what population

Ashkenazic Jews

31

Tay-Sachs disease -
age of onset

Normal at birth;
deterioration begins between @ 3 - 6 months

32

Tay-Sachs disease -
life expectancy

usually die by age 7 to 8 years

33

Tay-Sachs disease -
typical progression (7)

decreased muscle tone
listlessness
blindness
deafness
seizures
vegetative state
death

34

Tay-Sachs disease -
hallmark on eye exam

cherry red macula

35

DiGeorge Syndrome -
otherwise known as...

Velo-cardio-facial syndrome

36

DiGeorge Syndrome -
congenital defect affecting what areas of the body?

parathyroid
thymus
face (conotruncal anomalies)

37

DiGeorge Syndrome -
phenotypic presentation (3)

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

38

DiGeorge Syndrome -
endocrine effects

hypoparathyroidism
--> HYPOcalcemia --> seizures in infancy

39

DiGeorge Syndrome -
cognitive and behavioral problems?

yes

40

DiGeorge Syndrome -
cause of neonatal morbidity and mortality related to what?

cardiac defects

41

Down's syndrome -
what eye condition can be associated?

Brushfield spots (salt and pepper speckling of the iris)