Genetics

Question 1

Polyhydramnios-Associated Conditions

Answer 1

Congenital Anomalies: Anacephaly,Hydrocephaly, Tracheoesophageal fistula, Duodenal atresia, Spinal bifida,
Cleft lip/palate, Diaphragmatic hernia
Syndromes: Achondroplasia, Trisomy 18 and 21,TORCH,
Hydrops fetalis

Question 2

Oligohydramnios-Associated Conditions

Answer 2

Intrauterine growth restriction (compression syndromes):
Clubfoot, Spadelike hands, Flattened nasal bridge, Large flattened ears, Pulmonary hypoplasia,Twin-twin transfusion,
Renal agenesis, Prune belly syndrome,
Chromosomal abnormalities: Trisomy 21, Tay-Sachs

Question 3

CHARGE Syndrome/Association

Answer 3

Background: Described in 1979
Characteristic congenital features, Leading cause of
deaf-blindness
Etiology:70% gene mutation in CDH7 gene; autosomal dominant

Question 4

CHARGE Syndrome/Association Presentation

Answer 4

Presentation
– C: Coloboma of eye
– H: Heart defects
– A: Atresia of nasal choanae
– R: Retardation of growth and/or
development
– G: Genital and/or urinary abnormalities
– E: Ear abnormalities/deafne

Question 5

CHARGE Syndrome/Association Management

Answer 5

Treat each underlying condition (e.g. heart disease, choanal atresia). May require hormone replacement for
delayed puberty

Question 6

An adolescent with Marfan Syndrome is having scoliosis surgery? What medication would be expected on their home medication
profile?
a. Growth Hormone
b. Beta Blocker
c. Calcium
d. Thyroid replacement

Answer 6

b. Beta Blocker
Helps to slow the progression of aortic root dilation

Question 7

Which of the following statements is
accurate about Fragile X syndrome? It is
the most common cause of inherited:
a. Intellectual disability
b. Aortic root dilation
c. Infertility
d. Atlantoaxial instability

Answer 7

a. Intellectual disability

Question 8

What condition is associated with Oligohydramnios?
A Pulmonary Hypoplasia
B Duodenal atresia
C Cleft Lip
D Hydrocephaly

Answer 8

A Pulmonary Hypoplasia

Question 9

Which of the following genetic conditions is the leading cause of blindness and deafness?
A DiGeorge Syndrome
B Fragile X
C Turner Syndrome
D. CHARGE

Answer 9

D. CHARGE

Question 10

What therapy will a child with Turner’s syndrome require?
A. Breast reduction
B. Oral contraceptives.
C. Growth hormone
D. Insulin replacement

Answer 10

C. Growth hormone
for vertical growth challenges

Question 11

Klinefelter syndrome

Answer 11

XXY syndrome. Most common cause of primary hypogonadism.

Question 12

Klinefelter syndrome S/S

Answer 12

micropenis, hypospadias, cryptorchidism, behavioral problems, development delay, decreased sperm production & testosterone.
Small, firm testis, gynecomastia, infertility

Question 13

Klinefelter syndrome complications

Answer 13

HTN, ischemic heart disease, mitral valve prolapse, DVT’s & PE.
COPD, pneumonia, osteoporotic ox’s, osteoarthritis, essential tremors, SLE, RA, osteoporosis