Physical Findings
Cytogenetics
Diagnostic Testing
Treatment options
Potpourri
100

Loose folds of skin on neck in a physical exam can be medically defined as 

What is a webbed neck?

100

This is the most common type of Turner syndrome occurring in 40-50% of cases 

What is monosomy X?
100

This involves taking a small piece of tissue from the developing placenta.
Procedure is done from 11 to 14 weeks of pregnancy 

What is chorionic villus sampling?

100
Due to aortic issues patients are monitored by this noninvasive device that senses heart rate and rhythm 

What is an EKG

100

The sideway curvature of the spine is found in 10% of turner syndrome patients

What is scoliosis?

200

At birth the term lymphedema of legs and feet can be illustrated as

What is the swelling of the legs and feet?

200

This is defined has having two normal X chromosomes or other cells having one X chromosomes

What is Mosaic Turner Syndrome?

200

 In this test, a sample of the amniotic fluid is taken from the uterus.

What is Amniocentisis?

200

Patients might have to be on this type of therapy due to their short stature and regular monitoring by a endocrinologist 

What is growth hormone therapy?

200

Derived from the latin word aud which means to listen

Patients see an audiologist for what condition

What is sensorineural hearing loss?

300

An examination of a chest exam showed a shield test which is characterized as 

Broad chest with widely spaced nipples

300

Loss of a copy of this gene causes short stature in Turner Syndrome

What is the SHOX gene?
300

A simple blood test is drawn that shows a visual presentation of a persons chromosome arrangement

Karyotype

300

Due to their increased risk of low bone mineral density and fractures, patients are given these supplements and therapy 

What are vitamin D and Calcium supplements and Estrogen Therapy?

300

Progression of the disease can cause this condition defined as the body's lowered productivity in regulating metabolism

What is hypothyroidism?

400

Derived from the Greek term ptosis meaning "to fall" this condition can be seen on patients

What are drooping eyelids

400

Nondisjunction occurs during this phase of meiosis where sister chromatids or homologous chromosomes to be pulled to one pole of the cell. 

What is anaphase I?


400

signs of heart and kidney defects can show up these ways on a ultrasound   

What are horseshoe kidney and coarctation of the aorta?

400

This type of therapy is started because patients typically have abnormal AMH numbers

What is estrogen therapy?

400

Turner syndrome patients are more susceptible to this disease which derived from the Ancient Greek word koiliakós meaning abdomen 

What is celiac disease?
500

Coming from the latin word Valgus which means bent out this physical finding is characterized mundanely as 

what are bent out elbows?

500

In a rare case of Turner syndrome some individuals while have one copies of the X and partial copy of Y chromosome

What is Y chromosome material

500

elevated levels of this hormone involved in female puberty is suggestive of Turner Syndrome

What is FSH

500

Patients typically have this condition that is controlled by medications that block epinephrine

What is hypertension?

500

99% of women to some degree have this decreased ability which is linked to tasks such as navigating a map 



What is visuospatial ability?