Chapter·PediatricsGenetic disorders

Turner syndromeDownloads

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Sample Questions

1

A 14-year-old girl is brought to the physician because she frequently experiences cramping and pain in her legs during school sports. She is at the 10th percentile for height. Her blood pressure is 155/90 mm Hg. Examination shows a high-arched palate with maloccluded teeth and a low posterior hairline. The patient has a broad chest with widely spaced nipples. Pelvic examination shows normal external female genitalia with scant pubic hair. Without appropriate treatment, this patient is at the greatest risk of developing which of the following complications?

AAlzheimer disease

BHyperphagia

CPulmonary stenosis

DOsteoporosis

ESevere acne

2

A 16-year-old girl is brought to the physician because she has not yet had her 1st period. She was born at 39 weeks gestation via spontaneous vaginal delivery. She is up to date on all vaccines and meeting all developmental milestones. She has no history of a serious illness and takes no medications. Physical examination shows underdeveloped breasts with scant pubic and axillary hair. Speculum examination shows a short vagina and no cervix. The remainder of the physical examination shows no abnormalities. Pelvic ultrasound shows no uterus. Which of the following is the most likely karyotype in this patient?

A47,XXY

B45,X

C46,XY

D46,XX/46,XY

E46,XX

3

A 16-year-old girl presents with primary amenorrhea. On exam, you note that she is short and has a shield chest. You order abdominal imaging, which suggests the presence of streak gonads. Of the choices listed below, which of the following karyotypes is possible in this patient? I: 45,XO II: 45,XO/46,XX mosaicism III: 46,X,del(Xp) or other structural X abnormalities

AI and III

BI, II, and III

CII and III

DI and II

EI only

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