Review Questions

Prothrombin

Time

Normal

Normal

Prolonged

Prolonged

Normal

Partial

Thromb oplastin

Platelets

Bleeding Time

Time

A. Normal

B. Normal

C. Normal

Prolonged Normal

Normal

Prolonged Prolonged Prolonged Prolonged Normal

D. Decreased

E. Decreased

Prolonged Prolonged

2. A 24-year-old pregnant woman comes to the emergency department because of vaginal bleeding, abdominal pain, and uterine contractions. A placental abruption is diagnosed on the basis of clinical suspicion. Oxytocin is given, and the baby is delivered vaginally. All of a sudden, the woman develops shortness of breath and oozing from the intravenous site on her right arm. The blood that is passing from the genital tract is not clotting. Laboratory studies show a decreased platelet count, prolonged prothrombin time and partial thromboplastin time, decreased fibrinogen, and elevated fibrin split products. Which of the following is the most likely diagnosis?

A. Disseminated intravascular coagulation

B. Hemophilia A

C. Immune thrombocytopenia purpura

D. Thrombotic thrombocytopenia purpura

E. von Willebrand disease

Answers

Answer: A.

Genetic Disorders

A. Disorders Involving an Extra Autosome

1. Down syndrome (trisomy 21)

b. Most common of the chromosomal disorders c. Most common cause of inherited mental retardation d. Incidence: 1 in 700 births e. Risk increases with maternal age f. Pathogenesis i. Meiotic nondisjunction (95%)

ii. Robertsonian translocation (4%)

iii. Mosaicism due to mitotic nondisjunction during embryogenesis (1%)

g. Clinical findings i. Severe mental retardation ii. Mongoloid facial features (flat face, low-bridged nose, and epicanthal folds)

iii. Brushfield spots—speckled appearance of the iris iv. Muscular hypotonia v. Broad short neck vi. Palmar (simian) crease vii. Congenital heart defects

■ Endocardia] cushion defect • Atrioventricular canal viii. Duodenal atresia ("double-bubble" sign)

ix. Hirschsprung disease x. Increased risk (15-20x) of acute lymphoblastic leukemia (ALL)

xi. Alzheimer disease (by age 40 virtually all will develop Alzheimer disease)

2. Edward syndrome (trisomy 18)

a. Karyotype: 47 XX or XY+18

b. Risk increases with maternal age c. Caused by nondisjunction d. Clinical findings i. Mental retardation ii. Low set ears and micrognathia iii. Congenital heart defects iv. Overlapping flexed fingers v. Rocker-bottom feet

Note

Robertsonian Translocation Defined as a translocation involving two acrocentric chromosomes with the break points occurring close to the centromeres. This results in an extremely large chromosome and a tiny one, which is typically lost

Note

Mosaicism is defined as ihe presence of two or more populations of cells within an individual.

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