Question 1 A 5-day-old girl was born to a 40- year-old mother. On examination th

Question 1
A 5-day-old girl was born to a 40- year-old mother. On examination this girl has up slanted palpebral fissures and bilateral transverse palmar creases. Which of the following signs is mostly expected on examination of this baby?
a.
Cleft palate
b.
Hypotonia
c.
Absent grasp reflex
d.
Wide carrying angle
e.
Webbing of the neck
Question 2
A neonate presented with macrosomia, macroglossia and large umbilical hernia. Which of the following is the most likely result of lab work up?
a.
Hyperkalemia
b.
Metabolic alkalosis
c.
Microcytic hypochromic anemia
d.
Hypoglycemia
e.
Hypocalcemia
Question 3
A-14 -year-old male presented with gynecomastia, small penis and testes. He has long arms and legs and his intelligence was subnormal. The doctor suspected a chromosomal disorder. A sample was sent for karyotyping. What is the expected result?
a.
47 XXY
b.
47 XY
c.
47 XX
d.
47 XYY
e.
47 XXX
Question 4
An intellectually disabled 14-year-old boy has psychomotor delay and hyperactivity. On examination, the testicles are large in size and there are prominent ears and long face. Which of the following is the best method of investigation to reach a diagnosis?
a.
CGG repeat by DNA study
b.
Biopsy of the testicles
c.
Enhanced CT brain
d.
Urine for metabolic screening
e.
Chromosomal karyotyping