Genetics Flashcards

0
Q

Chromosome abnormalities can be seen in _____% of all newborns

A

0.5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

Normal Hans have how many chromosomes?

A

46

23 maternal and 23 paternal.
Gonads have 23

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What three chromosome abnormalities are associated with excessive growth?

A

Fragile X
XXY
XYY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Prenatal diagnosis of chromosome abnormalities are found during amniocentesis at ______ weeks of pregnancy and by chorionic villus sampling at ______ weeks of gestation

A

14-16

9-10

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Name the infectious agents associated with malformation and chromosome abnormalities.

A

TORCHES

Toxoplasmosis 
other: varicella or parvovirus. 
Rubella virus
Cytomegalovirus 
HErpes virus/HIV
Syphilis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Name the drugs associated with malformation congenital (5)

A
Alcohol 
Cocaine
Anticonvulsants - VPA
Warfarin 
Vitamin A derivatives
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What two maternal disorders can lead to malformations

A

Dm

Pku

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What three uterine factors could cause congenital malformation

A

Malformed uterus
Twinning
Polyhydramnios

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

6 indications for referral for genetic counseling

A
  1. Birth defects/MR/developmental delay
  2. Dysmorphic child
  3. Parent or sibling affected with known or suspected genetic disorder
  4. Positive family history of birth defects especially if multiple members are affected
  5. Possible teratogenic exposure
  6. Advanced maternal age (>35 years)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Which pathology?

upward slant of palpebral fissures
Brushfield spots of iris
protruding tongue
third fontanelle
low-set auricles
excess nuchal skin
single palmar (simian)crease
single flexion crease and incurving (clinodactyly) of 5th finger
increased distance between 1st and 2nd toes
mottling of skin
hypotonia
congenital heart disease - endocardial cushion defect, VSD
A

trisomy 21

down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Which pathology?

Intrauterine growth retardation (IUGR) 
short palpebral fissures
small mouth
micrognathia
low-set abnormal auricles
prominent occiput
short sternum
abnormal position of the fingers (second overlapping 3rd and 5th overlapping 4th)) 
hypoplastic fingernails
rocker-bottom feet,
CHD
spasticity
feeding problems/failure to thrive
A

trisomy 18

Edwards syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Which pathology?

IUGR all three paremeters
coloboma of iris (pupil of keyhole shape) 
capillary hemangioma
skin defect of skull
hyperconvex nails
polydactyly
rocer-bottom feet
arrhinencephaly
cleft lip and palate
congenital heart disease
urinary tract abnormalties
A

Trisomy 13

Patau’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

which pathology?

short stature
triangular face
abnormal shape of ears, webbed neck
broad shield chest
wide set nipples
congenital lymphedema of hands and feet
shortened 4th and 5th metacarpals and metatarsals
cubitus valgus
primary amenorrhea
CHD especially coarctation of aorta
mostly normal IQ
infertility
A

turner’s syndrome

45 X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

which pathology?

tall stature
post-pubertally small testicles
gynecomastia
eunuchoid build
increased risk for mild mental retardation (MR) 
learning and behavior problems
infertility
A

Klinefelter’s syndrome

47 XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly