Week 2 Disease Presentations Flashcards Preview

Block 1 > Week 2 Disease Presentations > Flashcards

Flashcards in Week 2 Disease Presentations Deck (19):
1

Diseases presented in week 2

Tirsomy 21 (Down's syndrome)

Aneuploidy

(1/700)

 

Trisomy 18 (Edward's syndrome)

Aneuploidy

(1/6,000)

 

Tirsomy 13 (Patau's syndrome)

Aneuploidy

(1/10,000)

 

22q microdeletion (DiGeorge Syndrome, Velocardiofacial Syndrome)

(1/2,000)

 

Klinefelter's syndrome XXY

(1/500)

 

Turner's syndrome XO

(1/2,000)

2

Three types of Trisomy 13/18/21?

Nondisjunction 

Robertsonian Translocation

Mosiac

3

Pathophysiology of trisomy 21?

Overexpression of dosage sensitive genes

may include: region 21q22.3; 33 genes  that is associated w/ craniofacial abnormalities, short stature, hypotonia, mental retardation

4

Trisomy 21

Postnatal symptoms:

Simian crease

Abundant neck skin

Flat facial profile

 Umbilical hernia
 Hypotonia

Small ears

epicanthal folds

Cardiac defects
 Gap between first and second toe
 Predisposition to leukemia

A image thumb
5

Screening & diagnostic techniques for trisomy 21

Ultrasound

Blood Test for AFP levels

Maternal History/Social Factors

Amniocentesis -- Fetal Cell Draw to Map Chromosomes

Chorionic Villus Sampling (CVS) -- Like amniocentesis, but larger sample and faster.

Cordocentesis -- Examine fetal blood via umbilical cord

Quad test

6

Prenatal Symptoms

Nuchal fold thickening

Cerebral ventriculomegaly (enlargment of ventricles)

Absent or hypoplastic nasal bone

Intracardiac hyperechogenic focus 
Aberrant right subclavian artery (ARSA) 
Hyperechogenic bowel 
Mild hydronephrosis 
Shortening of the femur or humerus

Q image thumb

Trisomy 21

7

Secreeening/diagnostic techniques for trisomy 13/18/21

Ultrasound

Quad test

Kareotype

Amniocentesis / Chronic Villus Sampling (CVS)

Cell Free DNA

8

Postnatal symptoms:

Rocker bottom feet

Clenched fists with overlapping fingers

Small displaced ears

Microcephaly

Microagathia (small jaw)

Elfin Appearance

Trisomy 18

A image thumb
9

Prenatal symptoms:

Polydactyly

Holoproscencephaly

Omphalocoele

proboscis (elongated appendage from the head)

VSD

Micropthalmia/anopthalmia

Tirsomy 13

10

Postnatal symptoms:

Cleft lip/palate

Polydactyly

Midline defects

Micropthalmia  (small eyes) / Anopthalamia

Trisomy 13

A image thumb
11

Cleft palate

Immune system problems

Facial differences

Bone abormalities

More likely ADHD and ASD

Q image thumb

22q microdeletion

12

Pathophysiology of 22q microdeletion:

TBX1 transcirption factor that is associated with symptoms (e.g. cleft palate and cardiac symptoms)

COMT gene -- behavioral and health problems

13

Screening techniques for 22q deletion

FISH

Microarray SNP

Cell-free fetal DNA

14

Symptoms:

Tall stature

Small testes

Poor beard growth

Breast development

Sterile

Female-type pubic hair

Osteoporosis

Reduced muscular mass

Quiet, docile, or shy

Klienfelter

A image thumb
15

Diagnostic techniques for Klienfelter

Chromosome analysis from lymphocytes from peripheral blood

Chorionic villus or amniocentesis sampling prenatally

16

Treatment for Klienefelter's syndrome

Testosterone Replacement Therapy (TRT)

Speech therapy, occupational therapy, and physical therapy

Sperm extraction? Can possible have children

17

Symptopms:

Renal fusion (abdomainal pain, kindey stones, UTI)

Aortic coarctation

Webbed neck

Short statue

Absent/incomplete puberty

Infertility

Absent mensturation

Poor breast development

Broad chest

Q image thumb

Turner's syndrome

18

Diagnostic tests for Turner's syndrome

Karyotyping

FISH X and Y

Cell free fetal DNA

Microarry SNP

19

Treatment for Turner's syndrome

Anticongestive drug therapy

GH therapy

Hormone therapy

Elective plastic surgery (webbed neck)