Week 2 Disease Presentations

Question 1

Diseases presented in week 2

Answer 1

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)

Question 2

Three types of Trisomy 13/18/21?

Answer 2

Nondisjunction

Robertsonian Translocation

Mosiac

Question 3

Pathophysiology of trisomy 21?

Answer 3

Overexpression of dosage sensitive genes

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

Question 4

Trisomy 21

Answer 4

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

Question 5

Screening & diagnostic techniques for trisomy 21

Answer 5

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

Question 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

Answer 6

Trisomy 21

Question 7

Secreeening/diagnostic techniques for trisomy 13/18/21

Answer 7

Ultrasound

Quad test

Kareotype

Amniocentesis / Chronic Villus Sampling (CVS)

Cell Free DNA

Question 8

Postnatal symptoms:

Rocker bottom feet

Clenched fists with overlapping fingers

Small displaced ears

Microcephaly

Microagathia (small jaw)

Elfin Appearance

Answer 8

Trisomy 18

Question 9

Prenatal symptoms:

Polydactyly

Holoproscencephaly

Omphalocoele

proboscis (elongated appendage from the head)

VSD

Micropthalmia/anopthalmia

Answer 9

Tirsomy 13

Question 10

Postnatal symptoms:

Cleft lip/palate

Polydactyly

Midline defects

Micropthalmia (small eyes) / Anopthalamia

Answer 10

Trisomy 13

Question 11

Cleft palate

Immune system problems

Facial differences

Bone abormalities

More likely ADHD and ASD

Answer 11

22q microdeletion

Question 12

Pathophysiology of 22q microdeletion:

Answer 12

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

COMT gene – behavioral and health problems

Question 13

Screening techniques for 22q deletion

Answer 13

FISH

Microarray SNP

Cell-free fetal DNA

Question 14

Symptoms:

Tall stature

Small testes

Poor beard growth

Breast development

Sterile

Female-type pubic hair

Osteoporosis

Reduced muscular mass

Quiet, docile, or shy

Answer 14

Klienfelter

Question 15

Diagnostic techniques for Klienfelter

Answer 15

Chromosome analysis from lymphocytes from peripheral blood

Chorionic villus or amniocentesis sampling prenatally

Question 16

Treatment for Klienefelter’s syndrome

Answer 16

Testosterone Replacement Therapy (TRT)

Speech therapy, occupational therapy, and physical therapy

Sperm extraction? Can possible have children

Question 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

Answer 17

Turner’s syndrome

Question 18

Diagnostic tests for Turner’s syndrome

Answer 18

Karyotyping

FISH X and Y

Cell free fetal DNA

Microarry SNP

Question 19

Treatment for Turner’s syndrome

Answer 19

Anticongestive drug therapy

GH therapy

Hormone therapy

Elective plastic surgery (webbed neck)