Genetics

Question 1

What condition is caused by an extra x chromosome?

Answer 1

Klinefelter’s Syndrome

Question 2

In Klinefelter syndrome, dysgenesis of seminiferous tubules leads to (decreased/increased) inhibin B levels, which result in increased follicle-stimulating hormone levels.

Answer 2

decreased

Question 3

Klinefelter syndrome is a sex chromosome disorder that is associated with an increased risk for ________ carcinoma in males.

Answer 3

Breast

Question 4

______ therapy can be used in patients with Klinefelter syndrome to promote the development of male secondary sex characteristics.

Answer 4

Androgen replacement

Question 5

physical characteristics associated with Klinefelter syndrome include developmental delay, testicular -_________ eunuchoid body shape, tall long extremities, gynecomastia, and female hair distribution.

Answer 5

Atrophy

Question 6

In Klinefelter syndrome, dysgenesis of seminiferous tubules leads to decreased inhibin B levels, which results in (decreased/increased) ______ follicle-stimulating hormone levels.

Answer 6

Increased

Question 7

In Klinefelter syndrome, Leydig cell dysfunction leads to decreased testosterone levels, which cause increased luteinizing hormone levels and subsequently (decreased/increased) _____ estrogen levels.

Answer 7

Increased

Question 8

In Klinefelter syndrome, Leydig cell dysfunction leads to (decreased/increased) luteinizing hormone levels and subsequently increased estrogen levels.

Answer 8

Increased

Question 9

The presence of an inactivated X chromosome, or _____ , in a man is associated with Klinefelter syndrome.

Answer 9

Barr body

Question 10

Klinefelter syndrome is a sex chromosome disorder that is characterized by _______ genotype.

Answer 10

XXY

Question 11

What is the term for a missing or extra sex chromosome?

Answer 11

Aneuploidy

Question 12

A 34 yr old pregnant primigravid woman at 26 weeks gestation presents to the OB clinic. Previous routine checkups done during this pregnancy were unremarkable. An amniocentesis is performed in order to ascertain the karyotype of the child. Ultrasound at the time of amniocentesis shows a male fetus with head circumference and total body length at the 53rd and 67th percentile, respectively. The resulting karyotypic analysis reveals the child has an accessory Y chromosome. Which of the following is a key characteristic associated with this condition?
Vertebral dislocation
Osteoporosis
Intellectual disability
Short stature
Anosmia

Answer 12

Intellectual disability

Question 13

A 14yr old boy presents to the physician accompanied by his parent for a routine visit. The patient has repeatedly failed reading comprehension and mathematics tests in school. The patient was born at an advanced maternal age of 42. Vital signs are WNL. The patient is at the 89th percentile for height. On physical examination, the patient is noted to have gynecomastia, long extremities, and testicular hypoplasia. A mid-systolic click is auscultated most prominently over the cardia apex. Which of the karyotype would best describe the patients chromosomal abnormality.

Answer 13

XXY

Question 14

A 15yr old boy presents to the pediatrician for a routine checkup. The parents privately express concern about the boy’s academic performance and physical appearance, stating that “he looks kind of different from the other boys at school”. The patient has repeatedly failed reading, writing, and mathematics, exams at school and is at risk of being held back a year. Temp 37.3, BP 112/73, P 73, The patient is at the 99th percentile for height. Physical examination reveals bilateral gynecomastia, narrow shoulders, and wide hips. Which of the following is an anticipated feature of this patient’s condition?
Infertility
Lymphedema
Diplopia
Joint hypermobility
Severe acne

Answer 14

Infertility

Question 15

What is the inheritance feature for cystic fibrosis?

Answer 15

Autosomal recessive

Question 16

The maintaining of a relatively stable internal environment by the body is called ________.

Answer 16

Homeostasis

Question 17

The term used to refer to a disease of unknown cause or spontaneous origin is _______.

Answer 17

Idiopathic

Question 18

A 16-year-old female presents with concerns that she has not had menses yet. On physical exam, the nurse practitioner finds short stature, neck webbing, and minimal breast development. What is the most likely diagnosis?

Answer 18

Turner Syndrome

Question 19

The manifestations of a disease are best defined as the __________.

Answer 19

signs and symptoms of a disease.